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Swallowing disorders evaluation and treatment

Swallowing Disorders: Evaluation and Treatment.

Swallowing Disorders: Evaluation and Treatment.

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By E.R. Johnson, MD. Presented to the Neuromuscular Disease Family Education Conference, October 1996.

I am reminded of the story of three individuals, a surgeon, an engineer and a politician, who discussed the importance of their profession in the origin of the world as described in the Book of Genesis. As you know, Eve was formed from the rib of Adam and that required a surgeon. The engineer said ,yes, but before that there was order created out of chaos that required engineers. Then the politician said, And who’s responsible for the chaos?

When I first began in medicine thirty-five years ago, there was chaos in the area of neuromuscular disease. My first experience with neuromuscular disease occurred in 1947, I had anterior poliomyelitis. And I still remember the rather marked muscle pain in the quite difficult swallowing which I had. Both my parents and myself rejoiced after about a year because I had appeared to have fully recovered, even though in the remainder of junior high and high school I found I was no star athlete I did reasonably well. Until I was drafted in the US Army after I got out of college and was assigned to take training at the Leadership School at Fort Benning, Georgia. In that particular time in order to eat at the mess hall, and there is a reason they call it mess, you had to do ten pull-ups and I couldn’t do them. That was embarrassing. Not only was it embarrassing but I had to lose weight until they finally allowed me to do pushups. I could do all of those. I still didn’t relate this to any neuromuscular disease or any muscle problems and completed my medical school and had seven and a half years of practice in general medicine in Lawrence, Kansas and then took a residency in Physical Medicine & Rehabilitation. At which point I found out that I had rather marked weakness in my biceps and my gluteus medii. And so, I know some of the problems you have to a very mild degree. It was chaos in terms of understanding neuromuscular disease because when I was in medical school (which was 35 years ago) there was no discussion of neuromuscular disease. We learned nothing. The only thing I could recall of that training was that in my senior year we were called to see a single patient. A patient in a major medical center where you see consultation from all over the state of Kansas. And was shown the patient with amyotrophic lateral sclerosis (ALS) and told you practice medicine for over 40 years, and you may see one of these patients and so we want to know what they are like. I was in practice seven days when the first ALS patient came in newly diagnosed by me. In fact, I had five more in the next seven years of practice . I suddenly realized that neuromuscular disease was far more common than what the medical school would have allowed us know. That’s changed.

At the University of California at Davis at present all senior medical students must pass through PM&R as a mandatory class assignment and they all go through a neuromuscular disease clinic and we hope some of them come through with an understanding of some of the aspects of neuromuscular disease that assist in doing the following: taking chaos out of the treatment of neuromuscular disease. It takes the politicians, it takes the physician, it takes the engineer and takes the consumer to accomplish this. And this we’ve learned over many, many years. As you know, 25 years ago physical barriers were absolutely incredible. In fact the new airport which was being built in the early 1970s in Dallas/Fortworth was on its way to construction when one of the social workers from the University of Texas Southwest medical school, looked at the plan and found out that the airport was wheelchair inaccessible. She went to the engineers, architects and builders and said, “You can’t do this.” And they said, “It’s on its way we’re not going to change.” She then went to the politician who was Smith, the Governor of the state of Texas and did get it changed. They stopped all construction until the design was corrected. We now face a bigger problem, I think, in terms of the chaos which may come about unless we do something in regards to neuromuscular disease. And that is the chaos is produced from the development in the entrepreneurial health care delivery system in which managed care blocks access to appropriate intervention, and appropriate kind of specialties. This is my assessment of where we’ve gone in the past 25 years and where we are now. I realize that this morning when people were talking about weight reduction and obesity as a major problem that the particular subject I have may not have much of an interest because I want to talk about dysphagia. “Phagia” meaning ingestion of and “dys” meaning inability to ingest. Because swallowing disorders are an important part of neuromuscular disease and are important in terms of maintenance of nutrition and hydration and prevention of aspiration pneumonia. I would like to discuss with you a little bit some of the things we are doing at the present time in order to define what the problem is.

About five or six years ago I asked one funding agency for a small amount of money to study swallowing problems in myotonic muscular dystrophy. In fact, I got back the note, don’t bother, there aren’t any. And yet, two years ago an article published in Europe in the Archives of Physical Medicine and Rehabilitation identified that one third of all myotonic dystrophy patients had swallowing disorders as did one third of limb girdle syndrome patients, and one third of spinal muscular atrophy and 50% of those individuals with polymyositis and dermatomyositis, and 44% with myasthenia gravis, 20% with Duchenne muscular dystrophy, and fortunately for those with facioscapulohumeral, only 6% of those with facioscapulohumeral dystrophy. As a consequence, there are these disorders and we didn’t even know how extensive their problems were. We knew those with ALS had significant problems as they progressed they got more and more difficulty with swallowing, and nutrition and hydration became major problems, even handling secretions became major problems. We also learned that the other kinds of neuromuscular diseases had significant swallowing problems too. In fact we were unaware at that time exactly how large the problem was.

Swallowing disorders, or dysphagia, are important problems associated with a variety of neurologic and neuromuscular disorders like brain injuries, myopathies and neuropathies which include many of the diagnoses associated with neuromuscular disease, and head and neck cancer, all have significant problems with simply maintaining hydration and maintaining nutrition without developing aspiration pneumonia.

The disorders come in a variety of problems.

These particular birds would have a considerable problem with their esophagus. This is the gullet, the tube through which food passes from the mouth down into the digestive organ. And in the human being, we have that same problem. Those individuals with neuromuscular disease do have impairment of esophageal motility. They have problems with slow transverse, or travel, of the food bolus through the esophagus. They could have problems down here at the diaphragm, with hiatal hernias and with reflux. That reflux can not only produce burning pain, difficulty swallowing with further swallowing, but could also involve aspiration pneumonia as we’ll see in a moment. So this is an area that can be viewed and easily by the gastroenterologists and neurology radiologists, and it can be done with standard type of x-rays. That is, we take about four frames per second, and we can see most of the disorders which occur in the esophagus. This is the esophagus here, and in front of that is another important article, and that is the trachea. This is the tube with which you breathe and you can see here is an area which can produce a great amount of difficulty and that is there is an opening in the mouth through which food passes, down the esophagus and we want it to go not into the trachea. If it goes into the trachea it drops into the lung and produces either aspiration pneumonia or death.

Here are some of the things can be defined by standard types of gastrointestinal studies, at four per second frames rate. You can see webs which are present in the esophagus which can produce block in swallowing, you can see hiatal hernias, and a wide variety of problems. And these have been known since 1950 because the radiologic studies are reasonably accomplished. However there are other kinds of disorders, and in this case you don’t have problems with the esophagus, we have problems with the area called the pharynx. Before about 1988, if we were to describe this bird with the kinds of information that we had about swallowing, that is if this were a swallowing disorder, all we could say was that this was a funny looking bird, because that’s all we could identify. We had very little quantitative data that would allow us to define what the problems are, at least the disease processes, and what can be done about them.

We were really interested in this particular area and not just the esophagus. The problems we had before 1988 was that we did not have the technology available to accomplish the measurements required. They were interested in this area here, this is the oral cavity, you can see the teeth. This is where the food is masticated, chewed up and prepared, the tongue is here. What happens, as we’ll see in a moment, is the tongue thrusts the food down into this area, this is the area of the pharynx, and then hopefully, the food passes down into the esophagus. And here is the area where the trachea is leading to the lung. This little finger of material here is called the epiglottis. It stands up allowing us to breathe. It folds down during the swallow for your protection, so that the food passes in the proper way. This is the bone called the hyoid bone and the thyroid bone and is very important in both moving the food into the stomach and preventing aspiration and pneumonia. The pharynx and esophagus are back here and this is a barium, a swallow evaluation material and it is in the wrong place. It is in the area of the vocal box. Here the vocal, this is the trachea. This person is aspirating material into the airway and it drops down into the lung and can lead to death, aspiration or pneumonia.

The purpose of the Dysphagia Center, which we generated in 1988 at the University of California, Davis was to establish an interdisciplinary programs for physicians, speech pathologists, nursing specialists, dietitians and other researchers on patients who present with swallowing disorders. The purpose of the referral was intent to define the nature of the dysphagia, in this case a patient with neuromuscular disease, to determine rehabilitation potential to guide the management of nutrition and swallowing and dysphagia, to prevent the pulmonary complications of previously undiagnosed aspiration and to ensure adequate nutrition. To do this, we had to look at a wide variety of new data in a way which could be measured. And the measurements had to be made at about 60 frames per second, not 4 frames per second. So we couldn’t use standard radiographic technique. We had to use what we call videofluroscopy, taking videotapes of patients swallowing material. We wanted to know something about the physiology of the neural control and although we had a lot of data which we call qualitative, that is we could tell whether this patient may or may not aspirate, we have very little of quantitative nature. And those of you who deal with research of this kind realize there is very little you can do without solvent quantitative data, where we use a wide variety of statistical tests to ensure that what we are measuring is valid, and ensure that what we do as treatment is a valid consequence. And we were concerned about treatment and consequences. And very little was known about neuromuscular disease at that time.

We know that swallowing disorders occur within a wide variety of neurologic and neuromuscular problems, with strokes, with problems with brain stem strokes. The area that we were concerned with is the anterior horn cells, which is the final cell which initiates the motor reflex. The axon, the telephone cable that carries the impulse from that motor neuron to the muscle, the neuromuscular junction, where there is a break and a material called acetylcholine has to jump across the gap, a receptor on the muscle side, and then finally the firing of the muscle to produce the action. Here is a schematic description of the event that takes place.

We do find with Duchenne muscular dystrophy and other patients that sometimes it’s difficult to chew. Sometimes it’s difficult to prepare the material for its passage into the stomach. The tongue is very important. It is actually the propulsive device through which we begin the initiation of what is called the swallow reflex. Once the tongue initiates that impulse the events that occur are reflexive or automatic, and they are controlled by a complex series of events that take place in the brain stem, as well as the frontal lobes. They both initiate the appropriate reflex and ensure that all the timing involved is correct.

This is the tongue, and this is called the hard palate. And it is this that the tongue pushes the bolus of food against in order to propel it down into the area called the pharynx. As we see here, if it doesn’t pass into the esophagus and down to the stomach, it may pass into the trachea the air tube, past the vocal cords down into the lungs. The vocal cords are very important because if you do happen to catch food going down the wrong pipe, as people say, what happens is they can catch the food, close, cough and expel the food that was not supposed to be there, if it is not too great. As you know if you eat steak, and you’re not watching what you’re doing, you can get a chunk of steak down into this area and you can’t cough it out. So, I’ll ask each of you a question. Many of you have family members with a neuromuscular disease. If you saw an individual that suddenly stops talking, obviously was having air hunger or great difficulty in breathing, how many of you know what to do? What is that? Heimlich Maneuver, exactly. Everyone, who has family with neuromuscular disease should know Heimlich Maneuver. It doesn’t matter whether the person is seated in a chair or whether the person is supine. All you have to do is place a fist right below the xyphoid process. And do this. A sharp thrust. What’s happening there is you should be below the level of the bony thorax. Use immediate expulsive force to push the stomach against diaphragm. The diaphragm is up against the lungs, and immediate force can dislodge food caught in the vocal cords and then permits the person to cough it on out. How do you know if you have been successful? They can breathe, and they can talk. Because when there is food lodged here, they can’t talk. So it is very important for all of you to understand the Heimlich maneuver and to be able to perform it fairly well.

You don’t have to have neuromuscular disease to aspirate either. King Farouk of Egypt in 1950 died in this way. People who don’t have neuromuscular disease who are talking, or laughing, or not paying attention when they swallow can end up with aspiration. It becomes very important for you if you already have a problem with neuromuscular disease to be sure and concentrate on what you’re doing, and not laughing and talking. I can be swallowing properly when I was fifty years of age, thought I had no further difficulty, but as you age you find sometimes you get what is called post polio syndrome, and even though there is no active degeneration or infection in the anterior horn cells, for some reason the anterior horn cells degenerate. Well, I have to be very careful because it becomes very embarrassing for me if I am eating and I cough and choke and sputter. In fact, there is another aspect of swallowing that is important, it is not only to use it for nutrition and hydration, but it is a very social thing to do. You go to family dinners, you go to dinners with company, and so swallowing has a social function as well as physical function.

Well, once we initiate that particular swallow, then the bolus passes on down, and the epiglottis begins to fold down here, so the bolus doesn’t go into the trachea. And then as the bolus carries on down, it passes through into the esophagus. In most people the epiglottis folds, there are a few people where it doesn’t. It doesn’t mean that one will aspirate if it doesn’t fold down, as a matter of fact, sword swallowers learn not to fold down, and to make a straight kind of slot into the esophagus, and they put the blade of the sword into their stomach. And finally, the food passes on through into the esophagus and the stomach.

It’s very important in order to accomplish this, that you move this hyoid bone and the trachea upwards. It opens upward and out and opens up this vestibule for the food in order to help propel it further down. What we found is that in most of the muscular disease problems, with the exception of polymyositis, these particular muscles do pretty well. As a matter of fact when we first studied the movement of the hyoid using a special process. We actually used a time motion analyzer which is used in cardiac catheterization labs, we thought that what we would find because of muscle weakness that the hyoid would not move as great a distance in individuals with neuromuscular diseases as other individuals. Actually we found it is the opposite. Actually the hyoid moves a greater distance. This is to compensate for greater weakness in this area. These are the constrictor muscles which further propel food on down through the esophagus. This is really important to us in terms of what do from a therapy point of view because what it used to be thought was what we should concentrate on is trying to get this hyoid to move higher, and we would concentrate exercises to do that. And it turns out that in all neuromuscular disease, with the exception of polymyositis, this moves quite well, and we need to concentrate on other areas to improve swallowing.

There’s another subject here which is very important in neuromuscular disease, particularly with certain kinds of diagnoses, oculopharyngeal dystrophy, and also limb girdle syndrome, and certain of the polymyositis acquired muscle disease, and that is this area which is called the upper esophageal sphincter.

It is a single muscle, called the cricopharyngeus , and that muscle actually acts as kind of a gatekeeper to the movement of food from the pharynx into the esophagus. And if the gatekeeper doesn’t relax at exactly the right moment you have a block in the passage into the tube. This is an electromyographic signal. An EMG is to put a needle into a muscle and to look at the electrical activity, somewhat like we look at the electrocardiogram , except that we slow the speed down and you can see the activity of the entire muscle. What you will notice is just at the moment when the bolus of food goes through the pharynx the cricopharygeus muscle has to relax. Here are the muscles, the “constrictor” muscles in pharynx that are contracting to move the food down. If these two contract and this muscle doesn’t relax, then obviously we have a big block. Here is a block. You can see it fairly well. It’s like a finger, it’s a barrier, so that the food is blocked, and this is called a cricopharyngeal block. And it’s important because with oculopharyngeal muscular dystrophy, a large number of individuals have that block. If you do have that bar, you can identify that there is a reasonable of constriction in the muscles above, you can go in surgically and simply cut the muscle. It’s called a miotomy, which allows the bolus of food to pass on into the esophagus, even sometimes with the weaker muscles. It’s interesting that in 1989, we had three individuals with limb girdle syndrome who had one of these pharyngeal bars and had great difficulty with swallowing. One of them actually said that it took him one and one half hours to eat lunch, and that he could not eat any kind of steak or solid food. After the cricopharyngeal miotomy, he could eat lunch in fifteen or twenty minutes, and he could eat steak, although we prefer red that he not do so, because we don’t like big chunks of food which often cause difficulties.

The other thing we like to do is to have control over what the individual eats. It is well demonstrated that if you get something down in the trachea, this water or solid, you initiate a cough reflex. However it is oil it doesn’t initiate the cough reflex. So if we have individuals who have dysphagia, or difficulty swallowing, we ask they not eat kinds of oils coming from the salad dressing, because if they get these into the trachea they will not initiate the cough response. Here again we can see a big, almost thumb-like projection, like a bar, that some can be resolved by doing a miotomy surgically.

What we want to do with our particular study is to do a wide variety of qualitative and quantitative reviews. We tried to find what’s happening swallowing both in normal individuals and in individuals with neuromuscular disorders so we can determine what the significant problems are. We won’t go over these, except we have ways of defining very clearly the time at which the swallow starts, and the time at which the swallow ends. We use the time at which the epiglottis flips back into its normal position as the end. And when we first began doing this, we did sixteen normal patients and did about forty stroke patients. We do this with a special mechanism with which we can digitize information on videotape. In this case it is a flurovideo. This is a timing device down here at the bottom which tells the time in seconds. By a hundredth of a second we define when certain events take place.

If you look at the time of swallowing of these patient’s, that if they have less than two seconds of swallowing time, there was no aspiration pneumonia. If it was greater than five seconds, there is a 90% incidence of aspiration pneumonia. So this allowed us in stroke patients to give predictive content to those individuals who might be susceptible to aspiration, and to define treatment plans to prevent those problems. We looked at other things associated with stroke with aspiration, and pneumonia. We have now done 65 neuromuscular disease individuals. This is a fairly large amount of data covering a wide variety of measurements and there are some things which are rather apparent. First is that the impairment in neuromuscular disease doesn’t come from tongue malfunction, or even from malfunction in the upper part of the pharynx. It comes from the constrictive muscles that are present in the pharynx to further project the bolus of food. It also comes from the cricopharyngeal bars. We know for instance in certain disorders, the one that causes major difficulties is polymyositis, and in this case, even the upper part of the pharynx is significantly impaired. These individuals very early will have major problems with swallowing. Those patients who have amyotrophic lateral sclerosis will also have progressive swallowing disorders. We use these methods with these problems to try to define how best to deal with those swallowing problems.

How do we deal with them? We try to prevent aspiration pneumonia, sometimes by even not allowing the person to eat. We put in what are called PEGs, or gastrostomy tubes, in order to allow proper hydration, nutrition. But we wouldn’t want to put in gastrostomy unless the swallowing impairment was so great that we are not able to resolve it. So we are gathering a large amount of data, which is currently being analyzed by utilizing the videofluroscopy in order to give us good solid information about how bad the problem is, and what we can do to correct it. When we do these, we don’t just do them for research, we try to assist individuals with swallowing disorders, and the families, with some qualitative kinds of advice.

This is one of the dynamic videofluoroscopy swallow study reports that are given once we complete the films and the analyses. We talk about this particular patient had a low bar myasthenia gravis, and was poorly responsive to the medication. Myasthenia gravis is a problem in which there is a blocking antibody in the receptor site on the muscle membrane that acetylcholine stimulates to start the muscle contraction. Recall that we have the axon, and at the end of the axon there is a little space between the nerve end and the muscle membrane. Something has to jump the space and the material that jumps the space is acetylcholine. As the nerve impulse comes down, packets of acetylcholine are released, are taken up by these special receptors which fire the muscle tissue. And those individuals having myasthenia gravis, there is a blocking antibody that blocks some receptors and does not allow the muscle to be stimulated. This is important sometimes and in fact, about two months ago, we had a 17 year old girl who was referred to the swallowing study because she was having trouble swallowing. When we did this study, we had not examined her since we took the referral from her physician. And when we looked at it, it looked like a patient who might have myasthenia gravis. So we asked to examine her and on examining her and taking a patient history, which is very important to understand what a patient can and can’t do, she said, “Yeah, I used to be able to carry two bags of groceries up a flight of stairs, I can’t do that anymore. ” This patient had myasthenia gravis. We look at the problems that are present in terms of oral function, mastication of food, and a function of normal swallowing time.

In this case, the patient had a normal swallowing time of 1.13 seconds. We were happy about that because it would mean she was less susceptible to aspiration pneumonia. On the other hand, when we looked at her residue, that is, what was left after the swallow, we found that she had marked residual of food still in the pharynx after the swallow. This helps us a little bit where for instance the cricopharyngeal residue is greater on the right. There are two things we can do for her. We can show her and her family what is important. One is that she can double swallow. That is, don’t take another bite until after you have swallowed and then swallowed again, to clear. The second way we found in our work with stroke patients is you have a bigger amount of residue, or a greater amount of weakness, on one side of the throat than the other, simply turn your head to the side of the weakness, or the residue, and this closes off that area and allows the food to pass in to the other side, which is stronger and in fact, we can give those kinds of recommendations.

In this case, there was no aspiration seen and since there was no aspiration there was no cough reflex. Her hyoid and laryngeal displacement was fairly high as we see in neuromuscular disease, and she seemed to be doing other things well. We thought she had the ability to maintain the bolus and the pharynx and reduce oropharyngeal restriction. The hyoid and laryngeal elevation were greater than expected because of compensatory effort, and that has been true of almost all the neuromuscular disease individuals that we have seen, much to our surprise, once we got the quantitative data. And then finally what we do is give a recommendation on this report. One thing we do not know is that is exceedingly important is what the effects of medications are. We really don’t know. There are many kinds of medications which are given for a wide variety of problems. Some of them are acetylcholine inhibitors, there are potent kinds of medication, and as yet we don’t know what the effects on swallowing are. We can use this information in order to test the effects of different kinds of medication.

At the time that this patient was seen she had a gastrostomy tube. She had a tube in her stomach which was used for feeding. We wanted to remove that because she had satisfactory progress and we could demonstrate on her swallowing study that she could carry the food satisfactorily. We knew she was having trouble with reflux. She took medications as well as raising the head of the bed, and the wide variety of things that could prevent the reflux, where it could be aspirated. All of us aspirate even if we don’t have neuromuscular disease. In fact, the majority of us in stage 3 or 4 sleep will aspirate. But we don’t develop aspiration pneumonia and that’s because we don’t have very large amounts of and most of don’t have high stomach acidity. If we have high stomach acidity or if we aspirate more than 4/10s of a cubic cm per kilogram of weight, we have a high incidence of aspiration pneumonia. So we were able to take the gastrostromy tube out, we changed the consistency of her food, and we were able to allow her to go back to eat.

Now most of us thought it would be harder to swallow solid foods than to swallow liquid and this is not true. Thin liquids are much more difficult to swallow than solids. We can change the consistency on our bolus of food and do that in with the barium that we use and decide how rapidly the patient can resolve swallowing difficulties. Well, anyway, there are some contraindications for swallowing evaluation. I would like to simply make one more statement. I grew up in Kansas. In our senior year in medical school we had to go out to a small town in rural Kansas to learn what medicine was really like. In the town I went to there were two physicians in the entire county. The story that traveled around that particular area, there were not enough people in that community to have a preacher. So they had itinerant pastors that went around each Sunday to see congregations. Apparently, one very bitter winter day when there was a blizzard one of the pastors with one of the smaller churches had found one parishioner by the name of Jim. The pastor said, “OK Jim, it’s a bad day out there. It’s a terrible day. What do you want to do? Do you want to have a service or not?” “Well, pastor, if I had a bunch of cattle out in the field, and I took a load of hay out to feed them and I found one cow, I’d sure feed him.” So this pastor said “That’s great.” So he decided that he would give a two hour sermon on the five points of Calvinism and at the end of that time he said, “OK Jim, what do you think?” Jim said, “Well pastor, if I had a bunch of cattle out in the field and I took a load of hay out to feed and I found one cow, I’d feed it, but I wouldn’t feed it the whole blame load.” There is no way in just a brief time we can identify for you all the aspects of swallowing disorders. But I did want you to know that some of the techniques that are being used to assist those of you who may develop problems with swallowing, and for us to gain more information about what can be accomplished. I get to ask one question. I have become concerned about what I would call the abrupt use of the entrepreneurial capitalism in terms of delivering health care. How many of you truly know what a managed care organization is? How many of you know what capitated management care organization means? I would ask all of you, both consumers and family to learn about it rapidly and now. Because changes are taking place, and it is going to take a coalition of doctors, engineers, politicians and consumers to ensure the disabled population, in particular neuromuscular disease individuals, can get the services they require, to see the physician specialists they need to, and get the durable equipment that they need.

Question: The thing that scares me is that our older sister died of aspiration. My brother and my problem is mostly when we are asleep, and the excessive fluid in our throat, and it happened to me last night, it happens to me three or four times a week. When I swallow, when I sleep, the wrong way. That’s what happened to my sister and she died. So I’m thinking that I’m just going to one night swallow like that and then just die. So that bothers me a lot. So what can I do about that? Can I lift my bed up or that type of thing? But when I’m asleep, I don’t know what I can do, about the saliva.

Answer: The saliva is not going to cause you to die. The saliva, if you have bad gum disease, you want to make sure your gums stay in good condition, see your dentist, get dental appointments. The problem there is if you aspirate, the saliva with bacteria in it, you can develop pneumonia and abscesses from that. So good dental hygiene. Second thing is, do elevate the head in the bed about six inches. I did say you’re absolutely correct. All of us aspirate in deep states 3 and 4 of REM sleep. But we don’t develop aspiration pneumonia and die. Why? Because one is that we have less of the 4/10ths of the cc per kilogram, if it’s a average 70kg weight man, that is not even 28ccs. You don’t aspirate any more than that. So don’t have a heavy meal before you go to bed at night. Have your meal earlier in the evening at 5 or 6, so that its fairly well through the stomach when you begin to digest. Stay away from eating things like peanuts and nuts or meat that’s not well chewed or grounded. Because if you get a chunk of it stuck and you happen to reflux, you may have aspiration. The other thing is if you have any propensity to have acid stomach take an antacid or one of the H2 blockers, cimetidine, etc., to keep the acidity of the stomach relatively high or alkaline because once the acidity drops to a 2.7 pH, you increase your incidence of aspiration pneumonia, not of aspiration and death. Those are some of the things that can help. What can also help is to take a look at the videofluroscopy and see how bad the problem is. It might be that the problem is so bad that you might want to alter how you get your nutrition. I think that you follow this advice and you really reduce your risk of aspiration to a death to a very low level. Be sure when you’re swallowing and eating, you need to pay attention. We all need to.

Question: Well, I have pneumonia about three or four times a year, and I’m concerned about getting choked off of saliva.

Answer: I don’t think you would choke off of saliva. You’re going to choke off of food. Another thing is if you have pneumonia three or four times a year, you need a dynamic swallow study. One of the indications is to have more than two episodes of pneumonia. It may be because you’re aspirating food. Not necessarily, but maybe. Good question. Yes.

Question: You talked about choking after eating how that can be from pooling of food that doesn’t go down. I do that quite often if I try to talk while I’m eating and I’m not very careful. Exactly what is pooling of food?

Answer: There are two areas where there are kind of spaces. One is right around the epiglottis, what I talked about earlier… They’re little spaces there and if you don’t have the muscle power to move the food beyond, and it’s right there near the tracheal opening, and the second is below that and it has sinuses, or spaces, that will kind of fill with food, if you have muscle weakness, that’s where it pools. If you take a look at the swallow study you’ll see that there is barium left that should not be there. You could help that by making sure you double swallow. If you do swallow quickly, if you have propensity to do that, then that second swallow will clear the foodstuff out. You could benefit from a swallow study to see where you are in this process.

Question: Just to comment, I have a high gradient and I had a reflux one night and I couldn’t breathe. It blocked out my air passage and everything and I felt like I was just going to suffocate. Since then I’ve taken two bricks, put them underneath the head of my bed and that has helped. Plus I take Zantac at bedtime.

Answer: Exactly. H2 blockers raise the pH. Remember the acidity, or relative acidity, and what happens is you can reflux, or acid reflux, you’ll know it. Good point. Anybody else?

Question: In myotonic muscular dystrophy, what is the contraction of the time? Does that mess up the timing of the whole swallowing process?

A: That is interesting. That’s a good question. We thought the tongue might be impaired, but it doesn’t seem to be impaired. It’s the muscles down in the constrictor muscles lower in the pharynx that seem to be the problem and we’re just learning something about how those muscles function, and how the myotonia works. It’s interesting. In 1968, there was a study done by doing some barium swallows, not the 16 per second studies, but four per second. And he was astute enough to realize, “You know, the hyoid moves up at a certain time and the hyoid relaxes as the swallow continues. You know, it looks like in those three patients that the hyoid stays up, it doesn’t relax. Just like in myotonic dystrophy, the muscles don’t relax. When we did the study on the timing, the initial movement of the hyoid is longer. Tape break.

Q: I have it almost two years. The pharmacist told me about a medication that cost just a few dollars. It changed everything now, I can breathe better, eat better, everything is better. And I am not choking.

A: What it is is excess saliva that produced by salivary glands. They use acetylcholine as a transmitting agent transmitting agent. If you get a medicine which is anti-cholinergic, and many of the cough medicines are that try to cut secretions that may be a benefit and I think that’s what you’ve got. The disadvantage is in some people, using anti-cholinergic is excessively dry mouth and have real bit of difficulty.

There are also medications which liquefy or make the mucous less sticky. And which will allow normal cleansing operations to clear that up, if the mucus is very thick.

Q: We have a problem in mucus becomes very thick, and having heart condition seems to limit the choice in medications that can be used to deal with the mucus problems. This leaves me with subtle little problems like this like not being to handle large pills. I used to be able to handle 500mg like that, which was a regular part of my diet. But after several rounds of these allergy attacks lately, I can no longer take these large pills. Is there a way around it?

A: Well, there are robitussin, not with the stuff that has codeine or a narcotic, are supposed to loosen up, make more liquid those thick (I don’t know when you’ve had this). You have to be careful not to take anything that makes it more liquid, or something that may give you cardiac disrhythmia.

Q: Hi, I have a daughter who has myotonic dystrophy. She’s got a gastrostomy button and when we give her stuff like codeine, she’ll hold it in the front of her mouth. And she has had aspiration pneumonia from applesauce. Can you tell me why she holds it in her mouth, or what I need to do to find out why.

Johnson: She won’t initiate swallowing?

Q: No, she won’t initiate swallow or try to swallow or anything. She’ll just hold it in her mouth and it eventually drools out.

Johnson: It could be weakness in the pharyngeal muscle. If she subjectively kind of feels she has trouble swallowing. I don’t know. You have to do a swallow study to know where the problem is. It could be that she knows she’s having trouble and at some level of functioning and consciousness, “No, I’m not going to do that.” I’m not sure why she would point to. We could do the swallow study with very small amounts of material, 1 cc. 1 cc of barium gives us the information. How old is she?

Q: Six.

Johnson: That’s no problem. I think the youngest we’ve done is 2 months. Any other questions? You’ve been a great audience. Thank you very much.

 

Some additional Information

 From: JoAnnEaton@aol.com 
 Date: Wed, 30 Aug 2000 12:25:35 EDT 

 

In a message dated 8/30/00 11:12:22 AM Central Daylight Time, JoAnnEaton
writes:

<< << As it happens I just saw a myotonic dystrophy outpatient for a video today. AND this type of pt with treatment options was discussed at a dysphagia conference conducted by Cathy Lazarus on Friday and Saturday. This type of muscular dystrophy swallowing disorder is characterized by the muscles being unable to relax (such as poor UES opening) and muscle weakness.   You'll see residue in the valeculae, pyriforms and laryngeal vestibule with incomplete UES opening and duration to clear the pharynx. Lazarus recommended NOT doing OM exercises, but concentrate on compensatory strategies (Swallow maneuvers--my guy is going to use a combination of the super supraglottic and Mendelsohn, and thinning textures) Treatment may indicate a myotomy or try eating laying down to protect the airway if appropriate. In the case of my client, he hasn't had any respiratory ailment in 4 years and he's walking around and active, so he remains on his regular liquids (would have more problems with thicker because of increased residue following the swallow) and his physician will consider a tx approach of myotomy or botox at a later date if he develops pneumonia.   Hope this is helpful.   JoAnn Eaton >>
 
Thursday, January 18, 2001

Testimony begins against Hendrick
By Jason Gibbs
Reporter-News Staff Writer

Testimony began Wednesday in a wrongful death suit in which a family from Dallas County is seeking $4 million in damages from a local hospital.

The suit in the 350th District Court claims that Hendrick Medical Center, Radiology Consultants of Abilene and a group of six physicians failed to properly diagnose and treat Janie R. Lowery, and administered a test that they say led to the 53-year-old woman’s death.

During opening arguments Wednesday, attorneys representing Hendrick and the six physicians rebutted the allegations, saying the highest standards of care were followed during Lowery’s evaluation and treatment at Hendrick.

Lowery was admitted to Hendrick Medical Center in January 1996 with complaints of muscular weakness and weight loss, said Alicia Slaughter, an attorney representing Lowery’s husband and three children.

The three Lowery children are incapacitated by myotonic muscular dystrophy, an inherited form of the degenerative disease, which produces both muscular weakness and severe, uncontrollable spasms. It can also lead to mental retardation.

Slaughter told the jury Dr. Joseph M. Ferguson had referred Lowery to two other Hendrick doctors for testing.

Because of the family history of myotonic muscular dystrophy, Ferguson sent Lowery to neurologist Dr. Russell Dickerson to see if that form of muscular dystrophy could be contributing to her muscular weakness, Slaughter said.

Prosecutors argued that Ferguson failed to properly test Lowery’s ability to swallow, a charge that attorneys for the doctor deny.

Lowery also suffered from a condition called celiac sprue, an inherited intolerance to foods containing gluten, a protein found in some foods, Slaughter said.

To determine if that condition could be causing some of her weakness, Lowery was referred to Dr. William Haynes, a gastrointestinal specialist. Haynes ordered an upper gastrointestinal examination that requires the patient to drink a radioactive barium solution. When the barium was administered, Lowery inhaled the solution, drawing it into her lungs instead of drinking it, Slaughter said.

Despite being placed on oxygen and having respiratory therapy prescribed, Lowery developed a fever the next day. She died Jan. 29.

Slaughter said she expects the testimony of expert witnesses to show that the doctors involved in Lowery’s care failed to properly check her ability to swallow, and administered the barium solution in an unsafe manner.

Attorneys representing Hendrick and the physicians involved in the suit countered Slaughter’s remarks, saying the three physicians — who between them have 65 years of education and practical experience — conducted tests on Lowery and felt she was able to perform the barium examination.

They also noted that, after the test in which she inhaled the barium solution, she was placed on oxygen and showed marked improvement immediately following the incident.

Lowery was able to eat ice cream and swallow medication after inhaling the solution, said attorney Robert Wagstaff, representing the physicians.

He said Dr. Ferguson had spoken with Lowery about her difficulty in swallowing during her first visit to his office.

“She said it was no problem,” Wagstaff said.

He also said the defense would produce witnesses to testify that barium is an inert material, with a “one-in-500,000 chance” of causing complications. The odds of barium leading to death are one in 2 million, he said.

He also impressed upon the jury that the expert witnesses Lowery’s attorney would be introducing had never examined Mrs. Lowery, and based their opinion solely on having read the medical files.

Testimony is expected to continue through next week.

Contact courts writer Jason Gibbs at 676-6734 or gibbsj@abinews.com.

 

 
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Evaluating Dysphagia
MICHAEL R. SPIEKER, CAPT, MC, USN
Naval Hospital, Jacksonville, Florida
Dysphagia is a problem that commonly affects patients cared for by family physicians in the office, as hospital inpatients and as nursing home residents. Familiar medical problems, including cerebrovascular accidents, gastroesophageal reflux disease and medication-related side effects, often lead to complaints of dysphagia. Stroke patients are at particular risk of aspiration because of dysphagia. Classifying dysphagia as oropharyngeal, esophageal and obstructive, or neuromuscular symptom complexes leads to a successful diagnosis in 80 to 85 percent of patients. Based on the patient history and physical examination, barium esophagram and/or gastroesophageal endoscopy can confirm the diagnosis. Special studies and consultation with subspecialists can confirm difficult diagnoses and help guide treatment strategies. (Am Fam Physician 2000;61:3639-48.)

Complaints of dysphagia (difficult swallowing) are common, especially in aging persons. Approximately 7 to 10 percent of adults older than 50 years have dysphagia, although this number may be artificially low because many patients with this problem may never seek medical care.1,2 Up to 25 percent of hospitalized patients and 30 to 40 percent of patients in nursing homes experience swallowing problems.3,4

Epidemiology

 
Stroke is the leading cause of oropharyngeal dysphagia. 
 
 
Diseases of the esophagus are among the top 50 reasons that patients seek medical care and, in frequency, rank alongside problems such as pneumonia, bronchitis and otitis media.5 Conditions that cause dysphagia can produce esophageal rupture, nutritional deficits and aspiration pneumonia. Elderly patients are at the highest risk of dysphagia and its subsequent complications, especially silent aspiration.

Although the two conditions are often associated, dysphagia should be distinguished from odynophagia (painful swallowing). In addition, care should also be taken not to confuse globus with dysphagia. Globus is the constant sensation of a lump in the throat, although no organic defect or true difficulty in swallowing is apparent.

Anatomy and Physiology of Deglutition

Deglutition is the act of swallowing in which a food or liquid bolus is transported from the mouth through the pharynx and esophagus into the stomach. Normal deglutition involves a complex series of voluntary and involuntary neuromuscular contractions proceeding from the mouth to the stomach and is commonly divided into oropharyngeal and esophageal stages.

Oropharyngeal Stage
The oropharyngeal stage of deglutition begins with contractions of the tongue and striated muscles of mastication. The muscles work in a coordinated fashion to mix the food bolus with saliva and propel it from the anterior oral cavity into the oropharynyx, where the involuntary swallowing reflex is triggered6 (Figure 1a). The cerebellum controls output for the motor nuclei of cranial nerves V, VII and XII. The entire sequence lasts about one second.

In the posterior oropharynx, a complex and precisely coordinated succession of muscular contractions and relaxations occurs. The soft palate elevates to close the nasopharynx, and the suprahyoid muscles pull the larynx up and forward6 (Figure 1b). The epiglottis moves downward to cover the airway while striated pharyngeal muscles contract to move the food bolus past the cricopharyngeus muscle (the physiologic upper esophageal sphincter and into the proximal esophagus6 (Figure 1c). This swallowing reflex lasts approximately one second and involves the motor and sensory tracts from cranial nerves IX and X.

Esophageal Stage
As food is propelled from the pharynx into the esophagus, involuntary contractions of the skeletal muscles of the upper esophagus force the bolus through the mid and distal esophagus. The medulla controls this involuntary swallowing reflex, although voluntary swallowing may be initiated by the cerebral cortex. The lower esophageal sphincter relaxes at the initiation of the swallow, and this relaxation persists until the food bolus is propelled into the stomach. It may take eight to 20 seconds for the contractions to drive the bolus into the stomach.7

 
 
 
FIGURE 1A. The tongue initially forms the food bolus (green) with compression against the hard palate. 
 
 
 
FIGURE 1B. Displacement of the food bolus into the pharynx by the tongue initiates deglutition. 
 
 
 
FIGURE 1C. Relaxation of the cricopharyngeal muscle (the physiological upper esophageal sphincter) permits movement of the food bolus into the proximal esophagus. 
 

Pathophysiology

Organic abnormalities of deglutition may be related to initiation of the swallowing reflex in the oropharynx or to propulsion of the food bolus through the esophagus (Table 1).8

In oropharyngeal dysphagia, symptoms arise from the dysfunctional transfer of a food bolus in the pharynx past the upper esophageal sphincter into the esophagus. Oropharyngeal dysphagia is most common in elderly patients and frequently presents as part of a broader complex of signs and symptoms that lead the physician to a correct primary diagnosis. Stroke is the leading cause of oropharyngeal dysphagia.8

 
TABLE 1
Differential Diagnoses of Dysphagia

 
Oropharyngeal dysphagia

 Esophageal dysphagia

 
Neuromuscular disease
Diseases of the central nervous system
Cerebrovascular accident
Parkinson’s disease
Brain stem tumors
Degenerative diseases
Amyotrophic lateral sclerosis
Multiple sclerosis
Huntington’s disease
Postinfectious
Poliomyelitis
Syphilis
Peripheral nervous system
Peripheral neuropathy
Motor end-plate dysfunction
Myasthenia gravis
Skeletal muscle disease (myopathies)
Polymyositis
Dermatomyositis
Muscular dystrophy (myotonic dystrophy, oculopharyngeal dystrophy)
 
Cricopharyngeal (upper esophageal sphincter), achalasia
Obstructive lesions

Tumors
Inflammatory masses
Trauma/surgical resection
Zenker’s diverticulum
Esophageal webs
Extrinsic structural lesions
Anterior mediastinal masses
Cervical spondylosis  Neuromuscular disorders
Achalasia
Spastic motor disorders
Diffuse esophageal spasm
Hypertensive lower esophageal sphincter
Nutcracker esophagus
Scleroderma
Obstructive lesions

Intrinsic structural lesions
Tumors
Strictures
Peptic
Radiation-induced
Chemical-induced
Medication-induced
Lower esophageal rings (Schatzki’s ring)
Esophageal webs
Foreign bodies
Extrinsic structural lesions
Vascular compression
Enlarged aorta or left atrium
Aberrant vessels
Mediastinal masses
Lymphadenopathy
Substernal thyroid 

 
Reproduced with permission from Castell DO. Approach to the patient with dysphagia. In: Yamada T, ed. Textbook of gastroenterology. 2d ed. Philadephia: Lippincott Williams & Wilkins, 1995.
 
 

Esophageal dysphagia is caused by disordered peristaltic motility or conditions that obstruct the flow of a food bolus through the esophagus into the stomach. Achalasia and scleroderma are the leading motility disorders, while carcinomas, strictures and Schatzki’s rings are the most common obstructive lesions.

History

 
Patients with dysphagia usually present with choking or coughing and report an abnormal sensation of food sticking to the back of the throat or upper chest when they are trying to swallow. 
 
 
Patients who have dysphagia may present with a variety of complaints, but they usually report coughing or choking, or the abnormal sensation of food sticking in the back of the throat or upper chest when they are trying to swallow. A carefully conducted patient history will enable the physician to identify 80 to 85 percent of the causes of dysphagia. Specific questions about the onset, duration and severity of the dysphagia, and a variety of associated symptoms (Table 2)9 may help narrow the differential diagnoses to a specific diagnosis or to an anatomic or pathophysiologic-related diagnosis.

A patient’s general health information should be reviewed, including long-term illnesses, current prescription medications, and alcohol and tobacco use. While the literature does not describe dysphagia caused by nonprescription drugs, it is always reasonable to inquire about this. Commonly prescribed medications can cause dysphagia in either the oropharyngeal or esophageal stages of swallowing (Table 3).10,11 Antibiotics (doxycycline [Vibramycin], tetracycline, clindamycin [Cleocin], trimethoprim-sulfamethoxazole [Bactrim, Septra]) and nonsteroidal anti-inflammatory drugs are the most common causes of direct mucosal injury to the esophagus, while potassium chloride tablets can cause the most severe injury. Anticholinergics, alpha adrenergic blockers, angiotensin-converting enzyme (ACE) inhibitors and many short- and long-acting antihistamines can cause xerostomia.

 
TABLE 2
Associated Symptoms and Possible Etiologies of Dysphagia

 
Condition

 Diagnoses to consider

 
Progressive dysphagia Neuromuscular dysphagia
Sudden dysphagia  Obstructive dysphagia, esophagitis
Difficulty initiating swallow Oropharyngeal dysphagia
Food “sticks” after swallow Esophageal dysphagia
Cough  
  Early in swallow Neuromuscular dysphagia
  Late in swallow Obstructive dysphagia
Weight loss  
  In the elderly Carcinoma
  With regurgitation Achalasia
Progressive symptoms  
  Heartburn Peptic stricture, scleroderma
Intermittent symptoms Rings and webs, diffuse esophageal spasm, nutcracker esophagus
Pain with dysphagia Esophagitis
    Postradiation
    Infectious: herpes simplex virus, monilia
    Pill-induced
Pain made worse by:  
  Solid food only Obstructive dysphagia
  Solids and liquids Neuromuscular dysphagias
Regurgitation of old food Zenker’s diverticulum
Weakness and dysphagia Cerebrovascular accidents, muscular dystrophies, myasthenia gravis, multiple sclerosis
Halitosis Zenker’s diverticulum
Dysphagia relieved with repeated swallows Achalasia
Dysphagia made worse with cold foods Neuromuscular motility disorders
 

Information from Johnson A. Deglutition. In: Scott-Brown WG, Kerr AG. Scott-Brown’s Otolaryngology. 6th ed. Boston: Butterworth-Heinemann, 1997.
 
 
 
TABLE 3
Medications Associated with Dysphagia

 
Medications that can cause direct esophageal mucosal injury10
Antibiotics
Doxycycline (Vibramycin)
Tetracycline
Clindamycin (Cleocin)
Trimethoprim-sulfamethoxazole (Bactrim, Septra)
Nonsteroidal anti-inflammatory drugs
Alendronate (Fosamax)
Zidovudine (Retrovir)
Ascorbic acid
Potassium chloride tablets (Slow-K)*
Theophylline
Quinidine gluconate
Ferrous sulfate
 Medications, hormones and foods associated with reduced lower esophageal sphincter tone and reflux11
Butylscopolamine
Theophylline
Nitrates
Calcium antagonists
Alcohol, fat, chocolate

Medications associated with xerostomia11

Anticholinergics: atropine, scopolamine (Transderm Scop)
Alpha adrenergic blockers
Angiotensin-converting enzyme inhibitors
Angiotensin II receptor blockers
Antiarrhythmics
Disopyramide (Norpace)
Mexiletine (Mexitil)
Ipratropium bromide (Atrovent)
Antihistamines
Diuretics
Opiates
Antipsychotics
 
 

*–Especially the slow-release (SR) formulation.

Information from Boyce HW. Drug-induced esophageal damage: diseases of medical progress. [Editorial] Gastrointest Endosc 1998;47:547-50, and Stoschus B, Allescher HD. Drug-induced dysphagia. Dysphagia 1993;8:154-9.
 
 
 

A carefully conducted patient history should answer two general questions: (1) is the dysphagia oropharyngeal or esophageal in nature and (2) is it caused by mechanical obstruction or a neuromuscular motility disorder?8 Figure 28 presents an algorithmic approach to the history.
 

 
Differential Diagnosis of Dysphagia 
 
 
FIGURE 2. Differentiating symptoms of dysphagia.
Information from Castell DO. Approach to the patient with dysphagia. In: Yamada T, ed. Textbook of gastroenterology. 2d ed. Philadelphia: Lippincott Williams & Wilkins, 1995.
 
 

Oropharyngeal Localization
Patients with oropharyngeal dysphagia present with difficulty in initiating swallowing and may also have associated coughing, choking or nasal regurgitation. The patient’s speech quality may have a nasal tone. These dysphagias are most often associated with stroke, Parkinson’s disease or other long-term neuromuscular disorders. Local structural lesions are less common.

Esophageal Localization
Patients with esophageal dysphagia present with the sensation of food sticking in their throat or chest. The patient’s description of the perceived location of the obstruction often does not correlate well with actual pathology, especially if the perceived location is in the cervical area. Motility disorders and mechanical obstructions are common. Several medications have been associated with direct esophageal mucosal injury while others can decrease lower esophageal sphincter pressures and cause reflux (Table 3).10,11

Neuromuscular Motility Disorders
Patients with neuromuscular dysphagia experience gradually progressive difficulty in swallowing solid food and liquids. Cold foods often aggravate the problem. Patients may succeed in passing the food bolus by repeated swallowing, by performing the Valsalva maneuver or by making a positional change. They are more likely to experience pain when swallowing than patients with simple obstruction. Achalasia, scleroderma and diffuse esophageal spasm are the most common causes of neuromuscular motility disorders.

Mechanical Obstruction
Obstructive pathology is typically associated with dysphagia of solid food but not liquids. Patients may be able to force food through the esophagus by performing a Valsalva maneuver, or they may regurgitate undigested food. Close questioning of the patient may reveal a change in diet to one of predominantly soft foods. Rapidly progressive dysphagia of a few months’ duration suggests esophageal carcinoma. Weight loss is more predictive of a mechanical obstructive lesion.12 Peptic stricture, carcinoma and Schatzki’s ring are the predominant obstructive lesions.

Physical Examination

A general physical examination and focused organ- or symptom-specific examinations based on the patient’s history often identify the etiology of dysphagia.

Neurologic evaluation should include assessments of the patient’s mental status, motor and sensory functioning, deep tendon reflexes and cranial nerves, and a cerebellar examination. Patients with impaired cognitive functioning and those who are under sedation should be carefully assessed, because these neurologic states can interfere with swallowing. Motor and sensory examinations may reveal a new stroke or identify a long-term illness. Special attention should be focused on the cranial nerves that are associated with swallowing, particularly the motor components of cranial nerves V, VII, IX, X and XII, and sensory fibers from cranial nerves V, VII, IX and X. A decreased gag reflex is associated with an increased risk of aspiration.13 A “wet voice” may suggest long-term laryngeal aspiration, while a weak, breathy voice may indicate vocal cord pathology.

Adequate saliva production results in a pink, well-hydrated oral cavity. Certain medications induce xerostoma preventing adequate mixing and propulsion of the food bolus into the posterior oropharynx (Table 3).10,11 A tongue blade and handheld mirror allow indirect inspection of the soft palate and vocal cord mobility. Physicians who are skilled in nasopharyngoscopy can directly view the vocal cords and hypopharynx. Bimanual palpation of the floor of the mouth, tongue and lips with a gloved hand detects masses and abnormal motor function. Examination of the teeth can reveal signs of inflammation or other structural disorders.

Observing the patient swallowing a variety of liquids and solids can be helpful. The patient should demonstrate enough neuromuscular control to chew food, mix it into a bolus with saliva and propel it to the posterior pharynx without choking or coughing. Elevation of the larynx during the swallowing reflex protects the airway and opens the upper esophageal sphincter. Normal laryngeal ascent can be palpated by placing the index finger above the patient’s thyroid cartilage when the patient swallows. The cartilage should move cephalad against the physician’s finger.

Thyroid masses and lymphadenopathy that cause obstructive dysphagia can be palpated on examination of the neck. A widened anteroposterior chest diameter and distant breath sounds are signs of chronic obstructive pulmonary disease, which could be caused by long-term aspiration. The patient’s abdomen should be examined for masses and organomegaly. The presence of occult blood in the stool may be a sign of neoplasms or esophagitis.

Laboratory Evaluation

Initial laboratory evaluations should be limited to specific studies based on the differential diagnosis generated after the completion of a history and physical examination. A complete blood count screens for infectious or inflammatory conditions. Thyroid function studies may detect hypo- or hyperthyroid-associated causes of dysphagia (e.g., Grave’s disease or thyroid carcinoma). Other studies should be based on specific clinical conditions.

Special Studies

 
Evaluation of Dysphagia 
 
 
FIGURE 3. An algorithmic approach to the diagnostic evaluation of dysphagia.
Adapted with permission from Trate DM, Parkman HP, Fisher RS. Dysphagia. Evaluation, diagnosis, and treatment. Prim Care 1996;23:417-32.
 
 
 
TABLE 4
Adjunct Studies to Evaluate Patients with Dysphagia

 
Barium swallow studies
Suspected obstructive lesion (e.g., Schatzki’s ring, tumor)
Suspected esophageal motility disorder
Double-contrast upper gastrointestinal evaluation
Suspected esophageal mucosal injury
Evaluation of oropharyngeal anatomy and function (fluoroscopy)
Suspected gastroesophageal reflux disease

Gastroesophageal endoscopy
Suspected acute obstructive lesion (impacted food bolus)
Evaluation of the esophageal mucosa
Confirmation of a positive barium study with biopsies or cytology

Manometry
Abnormality not identified on barium study or by endoscopy

pH monitoring
Suspected gastroesophageal reflux disease

Videoradiography
Suspected risk of aspiration
 
 
 
Although a patient history and physical examination identify the etiology of dysphagia in most patients, further testing may be indicated to confirm the diagnosis or to establish the patient’s risk of aspiration (Figure 314 and Table 4). Subspecialists in radiology or gastroenterology will most often conduct these tests. Some centers have multidisciplinary dysphagia teams available to offer comprehensive diagnostic evaluations and therapeutic interventions.

Nasopharyngoscopy
Nasopharyngoscopy is particularly useful in evaluating patients with oropharyngeal dysphagias. This procedure quickly identifies structural masses and lesions, and assesses laryngeal sensitivity to contact. Overuse of topical anesthetics can anesthetize the pharynx and confuse the interpretation. Under direct observation from the level of the soft palate, the physician assesses oral containment of a colored fluid bolus in the mouth and observes pooling of fluids around the vallecula or clearing of the fluid from the oropharynx into the esophagus. Patients who show aspiration without cough are at high risk of pulmonary complications.

Barium Studies
A barium study (esophagram) is often the first step in evaluating patients with dysphagia, especially if an obstructive lesion is suspected. It identifies intrinsic and extrinsic structural lesions but lacks precision in identifying the nature of obstructive lesions. A barium study assesses motility better than endoscopy and is relatively inexpensive with few complications; however, it can be difficult to perform in sick or uncooperative patients.

 
A barium study (esophagram) is often the first step in evaluating patients with dysphagia, especially if an obstructive lesion is suspected. 
 
 
Double-contrast studies provide better visualization of esophageal mucosa. Barium marshmallows or pills localize obstructive lesions in the mouth or esophagus. Fluoroscopy can identify abnormalities in the mouth and oropharynx and, if observed closely, can provide some detail about function, detecting reflux and abnormal peristalsis.

Endoscopy
Gastroesophageal endoscopy provides the best assessment of the esophageal mucosa.15 Masses or other lesions identified by barium studies should initiate esophagogastroscopy with biopsy and cytology. In patients with acute onset of dysphagia while eating, gastroesophageal endoscopy can directly remove an impacted food bolus and dilate strictures. Endoscopy has the added benefit of detecting infection and erosions, and providing biopsy capability. While endoscopy does not assess motor function or subtle strictures as well as barium studies15 (its sensitivity for detecting Schatzki’s rings is only 58 percent, compared with 95 percent for barium study), a consensus panel making final diagnoses in patients with dysphagia found that for all dysphagia diagnoses, gastroesophageal endoscopy is more sensitive (92 percent versus 54 percent) and more specific (100 percent versus 91 percent) than double-contrast upper gastrointestinal radiography.16 One author suggests that the higher cost of gastroesophageal endoscopy may be offset by lower subsequent medical costs because of its improved accuracy in diagnosing dysphagia.17

Videoradiographic Studies
Patients at risk for silent aspiration (e.g., stroke, neurologic impairment) may benefit from videoradiographic studies that are performed by a team composed of a radiologist, an otolaryngologist and a speech pathologist with expertise in swallowing disorders.17 This evaluation uses quantifiable measures of swallows of a variety of bolus consistencies to help objectively identify the presence, nature and severity of oropharyngeal swallowing problems and to assess treatment options. Compared with upper gastrointestinal radiography, videoradiographic studies are better in identifying patients with mild strictures and extrinsic compressions (e.g., tumors or osteoarthritic spurs of the vertebrae).12 These studies are more expensive because of the special expertise, equipment and facilities required.

Manometry
Manometry assesses motor function of the esophagus and is indicated if no abnormality is identified by barium study or gastroesophageal endoscopy.18 A catheter with multiple electronic pressure probes is passed into the stomach, measuring esophageal contractions and defining upper and lower esophageal responses to swallowing. Manometry detects definitive abnormalities in only 25 percent of patients with nonobstructive lesions. Its use in disorders of the oropharyngeal upper esophageal sphincter is not particularly effective, because patients do not tolerate the procedure well.

pH Monitoring
Despite several drawbacks, esophageal pH monitoring remains the gold standard for diagnosing patients with suspected reflux disease.19 A nasogastric probe is inserted into the patient’s esophagus and records pH levels. These levels are compared with the patient’s record of symptoms over a 24-hour period to determine if acid reflux contributes to the symptoms. Combined recordings of esophageal pH levels and intraluminal esophageal pressure may aid in diagnosing patients with reflux-induced esophageal spasm.

Other Imaging Techniques
Plain radiographic films of the chest or neck offer limited information unless structural abnormalities are noted. Computed tomography and magnetic resonance imaging scans provide excellent definition of structural abnormalities, particularly when used to evaluate patients with suspected central nervous system causes of dysphagia. Ultrasonography of the pharynx and tongue offers no benefit compared with videofluorography, but ultrasonography may aid in the evaluation of submucosal and extramural lesions of the esophagus. Radionuclide studies may be used to evaluate transit function through the esophagus.

Final Comment

Family physicians can reduce the symptoms and risks of complications by early and aggressive evaluation and management of stroke patients. Physicians should recommend that all patients, especially the elderly, take their medications with a full glass of water while in an upright position well before bedtime. Patient referral is warranted when the cause of dysphagia is unclear, when there is evidence of aspiration or if further diagnostic or therapeutic expertise is necessary.

The opinions and assertions contained herein are the private views of the author and are not to be construed as official or as reflecting the views of the Navy Department or the Department of Defense.

Members of various family practice departments develop articles for “Problem-Oriented Diagnosis.” This article is one in a series coordinated by the Department of Family Medicine at the Uniformed Services University of the Health Sciences, Bethesda, Md. Guest editors of the series are Francis G. O’Connor, LTC, MC, USA, and Jeannette E. South-Paul, COL, MC, USA.

 

The Author

MICHAEL R. SPIEKER, CAPT, MC, USN,
is currently director of residency training at the Naval Hospital, Jacksonville, Fla., and is an assistant professor at the Uniformed Services University of the Health Sciences F. Edward Hébert School of Medicine, Bethesda, Md. He earned his medical degree at the Oregon Health Sciences University School of Medicine, Portland, and completed a family practice residency at the Naval Hospital, Camp Pendleton, Calif.

Address correspondence to Michael R. Spieker, M.D., Naval Hospital, Family Practice, 2080 Child St., Jacksonville, FL 32214. Reprints are not available from the author.

REFERENCES

Lindgren S, Janzon L. Prevalence of swallowing complaints and clinical findings among 50-79-year-old men and women in an urban population. Dysphagia 1991;6:187-92.
Tibbling L, Gustafsson B. Dysphagia and its consequences in the elderly. Dysphagia 1991;6:200-2.
Brin MF, Younger D. Neurologic disorders and aspiration. Otolaryngol Clin North Am 1988;21:691-9.
Layne KA, Losinski DS, Zenner PM, Ament JA. Using the Fleming index of dysphagia to establish prevalence. Dysphagia 1989;4:39-42.
Nelson C, Woodwell D. National Ambulatory Medical Care Survey: 1993 summary. Vital Health Stat 13 1998:iii-vi,1-99.
Schuller DE, Schleuning AJ, DeWeese DD, Saunders WH. DeWeese and Saunders’ Otolaryngology–head and neck surgery. 8th ed. Schuller DE, Schleuning AJ, eds. St. Louis: Mosby, 1994.
Logemann JA. Evaluation and treatment of swallowing disorders. San Diego: College-Hill, 1983.
Castell DO. Approach to the patient with dysphagia. In: Yamada T, ed. Textbook of gastroenterology. 2d ed. Philadelphia: Lippincott Williams & Wilkins, 1995.
Johnson A. Deglutition. In: Scott-Brown WG, Kerr AG. Scott-Brown’s Otolaryngology. 6th ed. Boston: Butterworth-Heinemann, 1997.
Boyce HW. Drug-induced esophageal damage: diseases of medical progress. [Editorial] Gastrointest Endosc 1998;47:547-50.
Stoschus B, Allescher HD. Drug-induced dysphagia. Dysphagia 1993;8:154-9.
Kim CH, Weaver AL, Hsu JJ, Rainwater L, Zinsmeister AR. Discriminate value of esophageal symptoms: a study of the initial clinical findings in 499 patients with dysphagia of various causes. Mayo Clin Proc 1993;68:948-54.
Horner J, Massey EW. Silent aspiration following stroke. Neurology 1988;38:317-9.
Trate DM, Parkman HP, Fisher RS. Dysphagia. Evaluation, diagnosis, and treatment. Prim Care 1996; 23:417-32.
Cooper GS. Indications and contraindications for upper gastrointestinal endoscopy. Gastrointest Endosc Clin N Am 1994;4:439-54.
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Exercises for Swallowing Strength (may be helpful)

 

      WORDS FOR PEOPLE HAVING SWALLOWING PROBLEMS

                                                                                                                                                                               

        SAY THESE WORDS AS FAST AS YOU CAN, PREFERABLY ONCE A DAY

 

A myotonic dystrophy patient with swallowing problems is using this process and the swallowing has improved.

 

                                                                        G

 

Pronounced: /g/

Spelled:        g, gg, gh, gu, gue

 

G /g/ Initial – one syllable

gab                   gasp                             gild                               gong                             guild

gad                   gate                              gill                                good                             guilt

gag                   gauche                          gilt                                goods                            guise

gage                 gauge                           gird                               goofs                            gulch

Gail                  gaunt                            girl                                goose                            gulf

gain                  gauze                            girth                              gore                              gull

gained               gave                             give                              gorge                            gulls

gait                   gay                               go                                 got                                gulp

Gale                 Gayle                            goad                             gouge                           gum

gale                  gaze                             goal                              gout                              gun

gall                   gear                              goat                              gown                            Gus     

game                geese                            gob                               guard                            gush

games               get                                goes                             guess                            gust

gang                 ghost                            gold                              guessed                                    guy

gap                   gift                               golf                               guest                            Gus

gas                   gig                                gone                             guide

gash                 Gil

 

G /g/ Initial – two syllables

gable                Garfield                        Gertrude                      gobble                           govern

gadget              garish                           getting                          goblet                           guarded

gaily                 garland                         geyser                          goblin                             guernsey

gainful              garlic                            ghastly                          Godfrey                        guffaw

gala                  garment                        ghostly                          goggle                            guidance

gallant               garnet                           Gibson                          going                            guidebook

galley                garnish                          giddy                            goiter                            guidepost

gallon                garret                           gifted                            golden                           guilty

gallop                garter                           Gilbert                          goldfinch                      guinea

gallows             Gary                             Gilda                             goldfish             gully

gallstone            gaseous                                    Gilford                          Goldie                           gumbo

galore               gasket                           gimmick                        golly                              gumdrop

galosh               gaslight                         girdle                            good-bye                   gunboat

gamble              gateway                      girlhood             goodness                       gunfire

gander              gather                           girlish                            gopher                          guppy

Ganges             gaudy                           given                            Gordon                         gurgle

gangster            gavel                            giving                            gorgeous

G /g/ Initial – two syllables (cont.)

gangway            Gavin                            gizzard                          gory

garage              Gaylord             goal post                  gosling

garden              gazette                          goatee                          gossip

 

G /g/ Initial – three syllables

gaiety               gardener                       garrison                        getaway                      gooseberry

gallery              garden hose                 gasoline                        Gideon                          gorilla

galvanize            gardenia                      gathering                      goal keeper              government

Galveston            gardening                     gazebo                          goldenrod                     governor

 

G /g/ Medial – two syllables

again                auger                            begat                            begot                            bighead

against              August                          beget                            beguile                          bighorn

agape               bagful                           beggar                          begun                           bigot

agate                baggage                      begging                         Bengal                          bogus

agaze                bagman                         begin                            bigger                           bongo

aghast               bagpipe                         begone                          biggest                           braggart

Agnes               Bangor                        

 

 

 

                                                                        K

 

Pronounced: /k/

Spelled:        c, cc, cch, ch, ck, cq, cque, cu, k, qu

 

K /k/ Initial – one syllable

cab                   cashed                          come                            couth                            cut

cache               cask                             con                               cove                             cute

cached              cast                              cone                             cow                              kale

cad                   cat                                coo                               cowl                             Kay

cage                 catch                            cooed                           coy                               keel

caged               caught                          cook                             cub                               keeled

Cain                 cause                            cooked                          cube                             keen

cake                 caused                          cool                              cubed                           keep

calf                   cave                             cooled                           cud                               keg

call                   caved                           coop                             cue                               kelp

called                caw                              coot                              cued                             kemp

calm                 cawed                          cop                               cuff                              Ken

calmed              cay                               cope                             cuffed                           Kent

calves               coach                           cord                              cull                               kept

came                coached                      core                              culm                             ketch

can                   coal                              cored                            cult                               key

cane                 coarse                          cork                              cup                               kick

canned              coast                            corn                              cupped                          kicked

can’t                 coat                              corps                            cur                               kid

cap                   coax                             corpse                          curb                              kill

cape                 coaxed                          cost                              curbed                          killed

capped              cob                               cot                                curd                              kiln

K /k/ Initial – one syllable (cont.)

car                   cod                               cote                              cure                              kilt

card                  code                             couch                           cured                            kin

care                  cog                               cough                           curl                               kind

cared                coin                              coughed                      curled                           king

cart                  coined                           could                            curt                              kiss

carve                coke                             count                            curve                            kissed

carved              cold                              coup                             curved                          kit

case                 colt                               course                          cusp                             kite

cased                comb                            coursed                         cuss                              Kurt

cash                 combed                         court

 

K /k/ Initial – two syllables

cabbage            cable                            cackle                           cactus                           caddied

cabbie               cabled                           cackled                         caddie                           cadet

cabin                caboose

 

 

 
 

 

  
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This page is intended for educational purposes only, to provide an overview of Myotonic Dystrophy for patients, their families, and health care providers. It is not  intended to recommend any specific treatment, nor should  it be used as a guide for self-treatment. Patients with  Myotonic Dystrophy should consult their physician or heatlh care provider before making any changes to their treatment regimen.

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Last modified: April 11, 2006

 

  

  

Heart and lung problems myotonic dystrophy

 

Lecture presented by Chris W. Höweler M.D. of the University of Maastricht at the yearly meeting organised in October 1997 by the “Werkgroep Myotone Dystrofie (Myotonieën)” for patients and other people involved in myotonic dystrophy.

 

Myotonic Dystrophy (MD) is a muscle-dystrophy, which also causes disorders in other organ systems. So symptoms as cataract, irregular heart-beat, pneumonia or bowel troubles appear. The VSN-handbook for muscle diseases gives at page 32 a summary of the organ disorders. These disorders vary among patients and luckily not all of them appear simultaneously in one patient. Sometimes organ disorders end up in dangerous complications, particularly this is the case with irregular heart-beat and pneumonia. If timely detected medical treatment is often effective.

 

Although the heart is a kind of a muscle, weakness of the heart muscle and narrowing of the coronary arteries seldom occur with MD. Heart problems with MD are almost always initiated by irregular heart-beat, as the disease influences mainly the nervous system which transmits electric impulses in the heart. This is a special nerve-bundle from the auricles through the partition of the ventricles to both ventricles. This nervous system provides for contraction of the auricles and ventricles in a regular pattern. If this system does not properly function this may result in irregular heart-beat. Disorders in this nervous system are visible on the heartfilm produced by the electrocardiograph (ECG). With many MD-patients slight disorders are visible on the heartfilm. This may not result in complaints, but with a part of the patients this may result in palpitation, faintness and in worst cases in heart block. In recent years it became clear that a beginning disorder in the heartrythm, which is only detectable on the ECG, in the cause of 5 till 10 years can gradually grow worse. To prevent a sudden heart block the family doctor or nerve-specialist may perform an ECG-examination once a year or every few years. If beginning deflections are found, it is wise to consult a heart-specialist. He then performs a more extensive examination, for instance a ECG during  exertion on a bicycle or on a conveyor belt. Thus he is able to decide whether the disorder in the heartrythm needs treatment with medicine or makes insertion of a pacemaker necessary. Disorders in the heartrythm mainly occur during the advanced stage of the disease, but sometimes with people almost not yet troubled with their MD.

 

Lung problems mostly occur during the advanced stage of the disease. Here too the weakness of the breathing muscles is not the main problem, because with MD in the worst case the breathing muscles are slightly affected. Chronic mechanical respiration, which is sometimes necessary with other muscular diseases, is seldom necessary with MD-patients.

 

The main problem with MD is the acute pneumonia. It is often caused by choking, though the patient is not always aware of it. Obviously he is choking on saliva when asleep, because swallowing is more difficult when lying down than being upright. Pneumonia mostly starts in the lower lobe of the lungs, but it can extend within a few days and become a serious and dangerous infection of a complete lung. This should be treated quickly with antibiotics and cough-medicine. Often admittance to hospital is necessary and sometimes patients require temporarily a mechanical ventilator at an Intensive Care. Sometimes the trachea must be sucked out with a bronchoscope, a flexible thin pipe, slid through the trachea by a lung-physician. Often this way of fighting pneumonia is successful. With some patients who frequently choke, within a few years several times pneumonia occurs. This can be prevented by sleeping at night in upright position, thus preventing choking.. In this case it is wise not to eat in the evening because from a filled stomach sometimes  food is belched up, which can reach the lungs.

P.T.O.

During operations under general narcosis irregular heart-beat and pneumonia occur easier. Pneumonia can occur easily because MD-patients react more strongly on anaesthetics than average. They are longer dull, breathing is suppressed and they swallow difficulty in lying position. The irregular heart-beat can worsen too by anaesthetics. The combination of these problems makes operations under general narcosis more dangerous than with healthy patients. The risk of complications can rise up till 40% if no special precautions are taken during and after narcosis. The anaesthetist should be instructed before the operation that the patient has DM. Especially in case of acute problems, such as a broken leg or appendicitis, dangerous situations may arise because the surgeon does not recognise the muscular disease and has to operate quickly. The patient and his relatives themselves must take care that the surgeon and the anaesthetist are aware of the disease.

 

Another way to prevent these complications is to ask for an operation with local anaesthesia such as spinal block anaesthesia. Local anaesthesia is possible with many operations, among others with cataract operations or during  insertion of a pacemaker. It is wise to have operations performed only if it is absolutely necessary, for instance in case of a life-threatening disease.

 

Complications obviously occur more frequently with patients elder than 45 years of age. It is a problem that rather little is known about the later stage of MD. The disease often begins at an early grown-up age and increases very slowly. Most research is done among patients in a relatively early stage of the disease. The disease may however last 40 years or longer and the research-worker seldom can follow a patient from the beginning till the end.. That is why for instance we do not know how serious the disablement is in a later stage of the disease, neither how often and at which moment organ-complications occur. We too do not know which age most people get and what causes their death. For that reason during the last years research was made in South-Limburg among patients who were examined since 1950 by the late nerve-specialist De Jong. He graduated in 1955 on research made on MD. Data from these patients could mostly be overtaken, among others in the archives of hospitals in Maastricht, Heerlen and Sittard. Nerve-specialists from these hospitals collected these data and they were elaborated by Mrs. De Die-Smulders, clinical genetic-specialist in Maastricht.

 

She collected data from 330 MD-patients in South-Limburg.  83 patient with the adult type of the disease died since 1950. Many patients died between the ages of 50 and 65 years. A smaller group of patients grew elder and we know a patient who is now 75 years of age. A conclusion from this research is that the average life of patients with MD is shorter than the life of  healthy people. It is however not possible to make a prediction for an individual patient. The cause of death of these patients was also investigated. The cause of death could be established with 70 patients with the  adult type of MD. It came out that about 1/3 of the patients died of pneumonia and another 1/3 died  of irregular heart-beat. These complications often occur without reason, but too as complication of an operation or a broken leg. All in all it came out that a bit more than 70% of the patients died of one of the known complications of MD. Herewith it should be observed that many of these patients died decades ago in a time that hospitals were not equipped with an intensive care and pacemakers generally were not used. The prospects may be in favour of  patients who live now.

 

About 1/3 of the patients died of other causes, among others accidents, tuberculosis and cancer. An unexpected outcome of this research was that only 10% of the patients died of cancer, whereas in this age 37% of the people without MD die of cancer. So it is obvious that patients with myotonic dystrophy have less chance to get cancer than other people. To be able to say this for certain this research should be repeated among a bigger group of patients. So now we know that pneumonia and irregular heart-beat are the most dangerous complications of MD. Therefore it is important to try to prevent them and to attend early if they occur. These complications frequently occur after operations under narcosis, especially after the age of 45. They too can occur after breaking a bone with patients who tend to fall easier because of their muscle-dystrophy. This can be prevented by timely use of mechanical aids in case of falling frequently. These mechanical aids may consist of a  foothold to prevent stumbling over ruggedness, a shopping-cart for patients with week knees and in the worst case a wheelchair if walking outdoors is a problem.

 

 

 

 

 

Childhood type (3)

 

Age at onset: 1 – 12 years

Early symptoms:

Problems with learning

Problematic behaviour (less concentration, keeping oneself to oneself, fussy)

Problems with speaking

Bowel troubles

 

In the childhood type learning problems can be the only symptoms of DM, without any other complaints. Muscle weakness is often mild, or appears at adult age. The diagnosis DM is often not considered, especially if the disease is not (yet) known in one of the parents. Behavioural problems are frequent. These children may also have problems with their speech.

 

The types in families: the younger the more severe

 

In families the symptoms occur earlier in the successive generations = anticipation

Example:

Cataract in grandfather at the age of 50

Daughter: adult type from the age of 20

Grandson: congenital type

 

Anticipation is due to the growth in length of the expansion of the CTG building blocks in the DM-gene of each next generation.

Myotonic dystrophy is an autosomal dominant disorder. This means that both affected women as men can pass on the DM-gene to their sons and daughters. Any child of an affected person has a 50 % risk of inheriting the disorder. It is striking  that the disorder occurs in each next generation at younger age and the symptoms are more severe. As a rule the eldest generation in a family only has cataract (mild type), in the next generation are patients with the adult type, whilst in the youngest generation the congenital type occurs. This phenomenon is called anticipation. Recently a genetic explanation was found: It was found that the hereditary quality when passed on to the next generation gets longer, resulting in symptoms at a younger age and a more severe type of DM.

 

Organs which may be affected in myotonic dystrophy

 

Heart
irregular heart-beat

Lungs
pneumonia

Stomach
difficult swallowing

Bowels
diarrhoea, constipation

Glands
diabetes

Hormones
infertility in males

Womb
weak woes and raised loss of blood during delivery, irregular menstruation
 

Organ complications

 

Myotonic dystrophy is usually classified as a muscular disease, but in fact it is a disorder affecting many organs. A pneumonia caused by choking occurs often and has to be treated with antibiotics. Irregular heart-beat may cause  short-lasting fainting. If timely detected this can be treated by a heart-specialist with medicine or a pacemaker. There may be mental symptoms: The patients get slower, listless, and are lacking initiative; they need more sleep. Patients have increased risk during narcosis. There is a raised sensitivity for anaesthetics which combined with heart- and lung-problems may lead to complications during and after the operation. These problems especially occur when the anaesthetist and surgeon are not aware of the risks for patients with myotonic dystrophy.

 

 

 

 

BEHAVIOURAL AND EMOTIONAL FUNCTIONING OF CHILDREN AND ADOLESCENTS WITH THE JUVENILE TYPE OF MYOTONIC DYSTROPHY

 

Summary of the lecture delivered at the yearly meeting organised in October 1998 by the “Werkgroep Myotone Dystrofie” for patients and other people involved in myotonic dystrophy. This lecture was prepared by J Steyaert of Stichting Klinische Genetica Zuid-Oost Nederland, Maastricht.

 

The lecture was based on research among 29 children and adolescents between 8 and 18 years of age with the juvenile type of myotonic dystrophy.

To get information on the behavioural and emotional characteristics a standardised checklist, Achenbach’s CBCL (Child Behaviour CheckList), was used. Parents  were interviewed with ADIKA, a structured child psychiatric interview.

 

CBCL gave as result that 1 on 3 children and adolescents (10 of 29) scored in the clinical range for “internalising” problems. “Internalising” encompasses among others social problems and withdrawal. For “attention problems” also 1 on 3 scored in the clinical range. For “externalising” behaviour (aggression, criminality…) the score was comparable with the average score of  healthy people of the same age.

 

On the structured child psychiatric interview 9 on 29 fulfilled the criteria for the clinical syndrome ADHD (Attention Deficit and Hyperactivity Disorder). Main problems were impulsivity and attention deficit; hyperactivity was less conspicuous.

 

7 of 29 children and adolescents were suffering from clinical or unusual fears. 3 of 29 ever had problems of a depressive mood.

 

A number of the children and adolescents had two of the mentioned problems; 12 from the group of 29 had no behavioural or emotional problems.

 

Discussion

1. More than 50% of the assessed children and adolescents have behavioural and emotional problems which may hamper their education.

2.  Attention and concentration problems with impulsivity and lack of organising capabilities are the main problems. Fear problems come at the second stage. Problems with social integration frequently occur.

3.  Most children in the assessed group have more problems in the regions learning, behaviour and emotions than having motorial problems.

4   It is justified to examine children with major problems with learning or behaviour, if they have a hereditary taint for myotonic dystrophy, whether they indeed have this disorder. This may influence the education of these children.

 

 

 

 

LEARNING PROBLEMS OF CHILDREN AND ADOLESCENTS WITH THE JUVENILE TYPE OF MYOTONIC DYSTROPHY

 

Summary of the lecture delivered at the yearly meeting organised in October 1998 by the “Werkgroep Myotone Dystrofie” for patients and other people involved in myotonic dystrophy. This lecture was prepared by D.Willekens, Centrum Menselijke Erfelijkheid, University of Leuven, Belgium.

 

The lecture was based on research among 36 children and adolescents between 7 and 19 years of age with the juvenile type of myotonic dystrophy.

To get information on the intelligence, this was tested with the Wechsler scales: WISC-R (Wechsler Intelligence Scale for Children Revised)  for children from 6 till 16 years of age and WAIS (Wechsler Adult Intelligence Scale) for adolescents of 16 years of age and older.

 

Results:

– Mean total intelligence quotient (FSIQ): 75,2

– Mean verbal intelligence quotient VIQ): 75,8 (information, similarities, arithmetic, vocabulary, comprehension and digit span)

– Mean performance intelligence quotient (PIQ): 78,5 (picture completion, picture arrangement, block design, object assembly, substitution and mazes

– IQ-scatter: 50 – 98

– IQ 85 – 100: 10 children / adolescents

– IQ 70 – 84: 13 children / adolescents

– IQ < 70: 13 children / adolescents

 

The intelligence of all tested children and adolescents scores below 100. There is no significant difference between the mean performance intelligence and mean verbal intelligence of this group.

The children and adolescents of the group with IQ 85 – 100 have learning problems; 6 are in normal schools and 4 of them  get a denominational education. Few research is done on the nature of these learning problems. Their slowness, attention problems and in some cases dyslection may initiate these schoolproblems.

 

All children and adolescents with lower intelligence get  some type of denominational education. By the combination of learning problems and muscle problems it is expected that their majority will need a permanent protected living and work-environment.

 

 

MYOTONIC DYSTROPHY: ASSISTANCE AT DIFFERENT  AGES

 

This article was published in “MYONET” no. 3 May 1996, a newsletter on neuromuscular diseases. Myonet is published by the Vereniging Spierziekten Nederland (VSN) and is distributed free of charge among professionel assistents who are involved in their daily practice in treatment of people with a muscular disease. VSN aims at exchange of knowledge on treatment of neuromuscular diseases through Myonet. Authors are Christine E.M. De Die- Smulders, clinical geneticist at the Department of Clinical Genetics and Chris W. Höweler M.D.Department of Neurology, Academic Hospital Maastricht.

 

Myotonic dystrophy (MD) is a relatively frequently occurring  (about 1 patient among 7000 people), hereditary muscular disorder. Other names are Dystrophia Myotonica or Steinert’s disease. Characteristic symptoms are myotonia (muscle stiffness due to muscles failing to relax properly)  and slowly  progressive muscle weakness, especially of the face-muscles, the throat- and neck-muscles and the muscles in the fore-arm and lower part of the legs. Other organs may also be affected. This manifests itself in symptoms as cataract, irregular heart-beat, slowness, loss of initiative and infertility in males. There may be a considerable variation in the severity among patients, from only cataract at elder age to life-threatening muscle weakness at birth. The age at onset of the disorder and the character of the symptoms are highly  depending upon the length of the hereditary predisposition. Assistants from many different professions may get in touch with myotonic dystrophy patients. No medicine is known which improves the natural course of the disease. Good assistance of the patient is of mayor importance.

 

THE DIFFERENT TYPES: ACCORDING TO THE AGE

 

Myotonic dystrophy can be classified in 4 different types, depending on age at onset and main symptoms (table 1):

-mild type: age at onset after 50. Most patients only have cataract.

-adult (classic) type: myotonia and muscle weakness develop from puberty till the age of 50. Later defects occur in several organs.

-childhood type: a delay in development is most prominent; muscle weakness is often mild. The diagnosis MD is often not considered, especially if the disease is not (yet) known in one of the parents.

-congenital type: severe muscle weakness is already present at birth, leading to breathing- and swallowing-problems. During pregnancy there is much amniotic fluid (because the baby does not  swallow) and the mother feels less stirring of the baby. Nearly one half of the babies dies because of respiration problems. If they survive they recover considerably from the muscle weakness during the first years of life, indeed these children often have the characteristic tent-shaped mouth. The patients show a retarded motor and mental development. Bowel complaints and constipation often occur, and also inflammation of the ears. Besides there are often articulation problems, among others due to weakness of the palate. At adult age muscle stiffness and muscle weakness occur.

 

HEREDITY: THE LONGER THE GENE THE WORSE THE DISORDER

Myotonic dystrophy is an autosomal dominant disorder. Both affected women and men can pass the disposition (the gene) to their children. The risk per child that the disposition is passed on is 50 %. Striking is that the disorder begins at younger age and the course is more severe in successive generations. It is often seen in a family that the eldest generation has only cataract (the mild type), the next generation has patients with the adult type, whereas in the youngest generation  the childhood type or congenital type are met. This phenomenon is called anticipation. Recently the genetic explanation was found. In 1992 the structure of the MD gene was cleared, it was already known that it was located on chromosome 19. The gene has a certain piece of DNA with different length per patient. This piece of DNA consists of a variable amount of CTG triplet repeats. C, T and G are DNA building blocks. Roughly the severity of the disorder increases with growing amount of CTG triplet repeats (table 1, last column). The amount of CTG triplet repeats as a rule increases at passing on to the next generation, with anticipation as a consequence. A second peculiarity at passing on is that the congenital type almost always is passed on by an affected mother and not by an affected father. The background is that men with the adult type are often sterile. If they do get children the gene is often not longer and sometimes is even shorter in their offspring. After the diagnosis has been made it is important to inform the patient and his relatives about the heredity of the disorder; if necessary they can be passed to a clinical genetic centre. DNA examination in relatives may point out if they are affected. Parents with one of them having the disorder can early during  the pregnancy (through a chorionic villus-biopsy about the 11th week), have examined if the future child is predispositioned. If the result of the test is negative the parents have to make the difficult choice about eventually terminating the pregnancy.

 

Table 1: The 4 types of myotonic dystrophy, age at onset, important early and later symptoms and number of  CTG triplet repeats

Type
Age at onset
Early symptoms
Later symptoms
Number of CTG triplet repeats

Mild
>50
cataract
myotonia

slight weakness
40 – 120

Adult
12 – 50
myotonia,

muscle weakness
increased weakness, cataract, slowness/apathy, organ complications
200 – >1000

Childhood
1 – 12
learning problems,

speaking problems,

bowel problems
myotonia,

muscle weakness,

as the adult type
500 -> 2000

Congenital
birth
hypotonia cf Hoppinen,

breathing and swallowing problems,

learning and speaking problems, clubfeet
as the childhood type
1000 – >5000
 

 

CLOSE LOOK AT THE MUSCLE COMPLAINTS

 

The diagnosis

The muscle weakness begins gradually and it can last for years before the patient consults a physician. It is striking that patients with MD complain little, often causing the late diagnosis in the course of the disease. Others have no specific complaints such as fatigue, weakness, loss of initiative, stomach-complaints or swallowing problems and in those cases the diagnosis MD will not be considered. The diagnosis myotonic dystrophy may be made by the neurologist based on the combination of myotonia (stiffness) and typically spread muscle weakness (figure). This pattern is not seen with other muscle diseases. The diagnosis can be confirmed by finding the characteristic “myotonic” discharging at EMG (electromyographia)-tests, or by DNA-tests.

 

Muscle weakness

Weakness of the facial muscles is found in an early stage: the eyelids start hanging down and if the patient is asleep part of the white of the eye stays visible. It is no longer possible to laugh broadly. The speech gets indistinct and it looks like the patient speaks “through his nose”. The temples shrink by atrophy of the jaw-muscles. The slightly expressionless feautures are denoted by the term myopathic face. In a later stage the mouth hangs open and swallowing is more difficult. The weakness and atrophy of the bending muscles of the neck (especially the M. sternocleidomastoideus) is often pronounced. Patients cannot raise their head when lying down. The loss of power in the muscles of the fore-arm and hands together with the myotonia make the hands clumsy. Regarding the muscles in the lower part of the legs especially the dorsal flexion (raising) of the feet is reduced: The patient starts shuffling, stumbles over minor roughness’ and falls more frequently. In a later stage of the disease the muscle weakness will increase and the muscles of the upper-arm and upper-leg will be affected.

 

Myotonia

Myotonia is a painless muscle stiffness, notably affecting the hands after a firm grip. The stiffness disappears spontaneously after a short time. Cold can evoke or stimulate myotonia. Complaints are: difficulties with letting loose a door-handle and after shaking hands or cramp when wringing out a cloth, especially in wintertime. Most patients are slightly troubled by myotonia and will not complain spontaneously about it. It is very well possible to suppress myotonia with medicine, but most patients have no need for it. Moreover this medicine can intensify the tendency for irregular heart-beat.

 

ORGAN COMPLICATIONS

 

MD is usually classified as muscle disease, but in fact it affects many organsystems. Table 2 gives a synopsis of the organ complications. A patient seldomly has all symptoms and complications. Some complications may be life-threatening. Swallowing problems can cause pneumonia by choking. Irregular heartbeat can cause unconsciousness during a short time but can also lead to sudden death. If timely diagnosed this can be treated by a heart-specialist with medicine or a pacemaker. The brains can be affected too: patients are slow, listless, and are lacking initiative; they need more sleep: many MD-patients regularly feel strongly inclined to doze of. If the disease starts at young age a developmental retardation is obvious.

During narcosis patients have increased risk for complications. These problems especially occur when before the operation the anaesthetist and surgeon are not aware of the patient having MD, which often occurs with persons with mild symptoms. There is a raised sensitivity for anaesthetics and heart- and lung-problems may lead to complications during and after the operation.

 

NATURAL HISTORY AND DIAGNOSIS

 

It is obvious that the progression of the disorder is strongly dependent on the age at onset. In most cases the disorder is slowly progressive. Only after many years, about 20 till 30 years from the onset of the disorder, the muscle weakness spreads to the muscles of the upper arms and upper legs. Most patients stay mobile, although their radius of action is restricted till their homes. Seldom (in about 5% of the cases) patients get bound to a wheelchair. Lack of spirit, sleepiness and poor initiative have a strong influence upon the daily life of the persons concerned. Few research is done on the progress of the disorder nor the age of death. During follow-up research on a group of children with the congenital type the risk of dying before the age of 30 was found to be ± 50% (Reardon, 1992). In the group of MD patients under our control we found the mean age of dying for patients with the adult type is 55 – 60. Most frequent causes of death are pneumonia, sudden death by irregular heartbeat and complications after an operation under narcosis. It is still difficult to make a prognosis for an individual patient with MD.

 

ASSISTANCE OF THE PATIENT WITH MYOTONIC DYSTROPHY

 

Therapy is impossible (See below for updated information)

There is no medicine which improves the natural course of myotonic dystrophy or postpones the age of onset. Nevertheless it is very important to stay alert on factors which can be influenced, particularly many organ complications can be treated well. The possibilities for treatment are dealt with per age group.

BREAKING NEWS ON TREATMENTS: A recent study (Dec 2015) by Japanese and Polish researchers have found that Erythromycin an FDA approved drug might help with the treatment of Myotonic Dystrophy. This drug helped with the treatment of gastric symptoms in patients with myotonic dystrophy in a separate study in 2002. As the Congenital form of the disease is more severe and affects the brain more your doctor may want to consider this treatment. Read more about this potential treatment here. Other treatments are in development as well

 

New-born babies

If a woman having MD herself is pregnant, careful control is recommended. Anyhow the delivery should be in a hospital. If during pregnancy there are indications the baby having  the congenital type (much amniotic fluid, reduced foetal movements), adequate care for the new-born baby should be foreseen before birth. Insufficient breathing often occurs, it is caused by a combination of underdeveloped lungs and weakness of the breathing muscles, artificial respiration is often necessary. If a caesarean section is necessary attention should be paid to possible aneasthetic problems for the mother. Other problems at delivery are weak labour and excessive loss of blood. Moreover in many cases the diagnosis with the mother is made after giving birth to a baby with the congenital type!

 

 

Table 2: Organ systems which may be affected, main symptoms and their treatment

Organ system
Symptoms
Treatment

Heart
irregular heartbeat

 

 

sudden death
regular ECG-examination, in case of abnormalities consult of a heart-specialist. Treatment with medicines or a pacemaker.

.

Lungs
pneumonia resulting from choking

 

 

 

 

hypoventilation
antibiotics,

prevention: sleeping upright, adjustment of diet (embankment of food, more often small meals, no eating in the evening),

in case of repeated  pneumonia consider gastrotomia, eventually examine the function  of the gullet.

breathing exercises

Stomach and gut
swallowing problem

diarrhoea/constipation
mince food

medication (cisapride)

Skin
baldness

Endocrine organs
diabetes

male: infertility by atrophy of testis

woman: irregular menses
diet, insulin injections

Eyes
cataract
operative extraction of the lens, implanting an artificial lens

Brains
slowness, apathy, sleepiness, mental retardation
temporizing, excluding hypoventilation as cause

Operation/

anaesthesia
repiratory failure,

raised sensibility for  narcotics and sedatives,

disorders in the functioning of the heart
inform the anaesthetist timely, adapt medication, control of respiration and functioning of the heart after an operation, if possible local anaesthesia, especially operations of the belly are risky
 

 

 

From little child till adolescent

The muscle weakness seen with congenital affected children decreases without therapy during the first years of life through further ripening of the muscles. In case of continuing hypotonia an adapted chair or chart may be necessary. Scoliosis (extreme lateral curvature of the spine) and contractures (joints becoming deformed) seldomly occur with MD.

Clubfeet must be treated by plaster bandage or sometimes by surgical correction. A retarded motor development needs treatment by physical therapy. Almost all children sooner or later learn to walk. The mental retardation (intellectual disability) is an important characteristic of the congenital type and of the childhood type (IQ mostly 50-80). The children with the congenital type learn to speak and learn to take care of themselves, but mostly they do not learn to read and write. It is important to test the child in time and to choose the right type of school based on the test results. Most children need special education. Take care that the child is not underestimated. Factors which may influence underestimation are the facial muscle weakness (slightly expressionless features), the problems with speaking, poor hearing and slowness. In the childhood type problems with learning may be the only symptom, without any physical complaint. Probably behaviour problems and poor concentration occur frequently. Often children with MD get difficultly in touch with other children. Assistance by an educationist or psychologist is preferable. The problems with speaking result from a combination of weakness of the palate, other muscle problems and the generally retarded development. Speech therapy is then required. Medical problems such as abdominal complaints and inflammation of the ears and squinting have to be treated in the usual way. To co-ordinate the care for the child with MD it is wise to consult regularly a pediatrician or children’s neurologist.

Adult

The role of physical therapy in maintaining or improving the muscular strength is limited. According to recent research from E. Lindeman, rehabilitation doctor, muscle-strengthening exercises do not or scarcely influence the strength in the legs, but do not harm. If a patient stumbles frequently by weakness of the lower leg muscles consultation with the rehabilitation doctor is warranted, a boot or a foothold to prevent stumbling can be advised. With more extensive muscle weakness and problems with walking a walker or shopping-cart can do good service. Total dependence on a wheelchair occurs only in a very late stage of the disease; sometimes the wheelchair is only used outdoors. In case of weakness of the muscles of the neck make provisions for good  headrests in chairs especially in the car, also an adjusted collar may be necessary. At adult age the emphasis is on organ complications (table 2, last column).

SOCIAL FUNCTIONING, LIVING AND WORKING

Many patients for a long time can function independently in a family. Sometimes the house has to be adjusted and along the staircase a lift can be installed. The sleepiness and lack of initiative can cause problems. Especially the partner and inmates suffer from it. The patient himself often is not aware of it. Also at work these symptoms may cause problems. Employment for many patients is still possible for a long time if the tempo can be adjusted and the employer and the colleagues appreciate the problems of the patient. If this is not possible, working in a sheltered employment may give the solution. Many women are able to keep the house independently for a long time if inmates or others stand by. Sometimes adjustments in the kitchen are useful. Because of the complexity of the problems which arise in many cases ( co-ordination of the) assistance by a neurologist or rehabilitation doctor is recommendable. If necessary psychosocial assistance (for instance by a welfare worker) can be tendered. In case of mental disability independent functioning is not always possible. At adult age the patient will be admitted to a day-care centre or a home for mentally disabled people.

References

1. Handboek Spierziekten. Eindredactie YS. Poortman. De Fontein, Baarn, 1994.

2. Harper PS. Myotonic dystrophy, 2nd edn. WB Saunders, London and Philadelphia, 1989.

3. Höweler CJ. Nieuwe inzichten bij dystrophia myotonica. Ned Tijdschr Geneeskd 1988; 132:1076-1078.

4. Brunner HG, Höweler CJ, Smeets HJM, Wieringa B. Een instabiele mutatie als oorzaak van myotone dystrofie. Ned Tijdschr Geneeskd 1993; 137:2469-2472.

5. Lindeman E. Strength and effects of training in myotonic dystrphy and HMSN. Thesis 1996. Rijksuniversiteit Limburg, Maastricht.

6. Reardon W, Newcombe R, Fenton I, Sibert J. Harper PS. The natural history of congenital myotonic dystrophy: mortality and long term clinical aspects. Arch Dis Child 1993; 68:177-181.

Patient Management

THE DIFFERENT TYPES OF MYOTONIC  DYSTROPHY

 

Summary of the lecture by Christine E.M. De Die- Smulders MD  of the University of Maastricht at the yearly meeting organised in October 1996 by the “Werkgroep Dystrophia Myotonica” for patients and other people involved in myotonic dystrophy. This lecture was meant for the new participants of  this annual meeting.

 

Introduction

 

Myotonic Dystrophy (DM) is a  relatively frequently occurring, hereditary muscular disorder. Characteristic symptoms are myotonia (muscle stiffness due to muscles failing to relax properly)  and slowly  progressive muscle weakness, especially of the face-muscles, the throat- and neck-muscles and the muscles in the fore-arm and lower part of the legs. Other organs may also be affected. This manifests itself in  symptoms  as cataract, irregular heart-beat, slowness, loss of initiative and infertility in males. There may be a considerable variation in the severeness among patients. The age at onset of the disorder and the character of the symptoms are highly  depending upon the length of the expansion of the CTG repeat in the DM-gene.

 

Classification in four types according to age and main symptoms

 

1              Mild type

2              Adult (= classic) type

3              Childhood type

4              Congenital type  

 

Adult type (2)

Age at onset: 12 – 50 years

 

Initial symptoms:

Muscle weakness

Myotonia
 Later symptoms:

Increasing muscle weakness

Cataract

Slowness, loss of initiative

Defects in several organs
 

 

The adult (classic) type is the most frequently occurring type. Myotonia and muscle weakness develop from puberty till the age of 50. Myotonia is a painless muscle stiffness, notably affecting the hands after a firm grip. Complaints are: difficulties with letting loose a door-handle and after shaking hands or cramp when wringing out a cloth, especially in wintertime. The stiffness disappears spontaneously after a short time. Cold can evoke or stimulate this stiffness. Most patients are slightly troubled by myotonia and will not complain spontaneously about it.

The muscle weakness starts gradually and it may last for years before a patient consults a doctor. Weakness of  face-muscles appears at an early stage: The eyelids hang down and when the patient is asleep part of the white of the eye stays visible. It is no longer possible to laugh broadly. Speech gets indistinct and it looks like the patient speaks “through his nose”. The temples shrink by the jaw-muscles getting thinner. The weakness of the bending muscles of the neck is often pronounced. Patients cannot raise their heads when lying down. The loss of power  in the muscles of the fore-arm and hands makes together with the myotonia the hands clumsy. Regarding the muscles the lower part of the legs especially the raising of the feet is reduced: The patients start shuffling, stumble over minor roughness’ and fall more frequently. Sometimes next to these there are less specific complaints such as fatigue, lack of spirit, stomach-complaints or swallowing problems.

In a later stage of the disease the muscle weakness will increase and the muscles of the upper-arm and upper-part of the leg will be affected. Most patients however stay mobile if their radius of action is reduced till in and around their homes. Seldomly patients get bound to a wheelchair.  

 

Mild type (1)

 

Age at onset: over 50 years

 

Initial symptom:

Cataract

 
 Later symptoms:

Muscle weakness

Myotonia
 

The mild type starts after the age of 50. Most patients only get cataract. In a later stage mild muscle weakness and myotonia may appear. If the illness is unknown in the family it is seldom recognised that the cataract is part of a muscle-disease.

 

Congenital type (4)

During pregnancy:

Much amniotic fluid

Reduced fetal movements

 

At birth:

Muscle weakness

Problems with breathing and swallowing

Clubfeet

Weak  face-muscles

 

First year of life:

Muscle weakness decreases

Baby learns breathing and drinking by him/herself

Slower development
 After the first year of life:

Learn to walk  (2 – 5 years of age)

Learn to speak (sometimes indistinctly)

Get cleanly

Problems with learning

Squinting

Inflammation of the ears

Problems with bowels

 
 

 

The congenital type shows severe muscle weakness and decreased muscle strength at birth which leads to problems with breathing and swallowing. During pregnancy there is much amniotic fluid (because the baby does not  swallow) and the mother feels less stirring of the baby. A number of babies die because of breathing problems. If they survive they recover considerably from the muscle weakness during the first years of life, because of growth of the muscles. Indeed these children often have the characteristic tent-shaped mouth. The patients show a retarded motor development, which needs treatment by a physiotherapist. A majority of the children learns to walk between the age of 2 and 5 years. Bowel cramping and constipation often occur, just like inflammation of the inner ears. Besides there are problems with speaking, among others due to weakness of the palate. At adult age muscle stiffness and muscle weakness occur.

The mental retardation with this type is often mild to moderate. The children learn to speak and learn to take care of themselves, but mostly they do not learn to read and write. It is important to test the child in time and to choose the right type of school based on the testresults. Most children need special education. Take care that the child is not underestimated. Factors which may influence underestimation are the facial muscle weakness, the problems with speaking, poor hearing and slowness.

The congenital type is almost always passed on by an affected mother, seldom by an affected father.

Types of myotonic dystrophy

THE DIFFERENT TYPES OF MYOTONIC  DYSTROPHY

 

Summary of the lecture by Christine E.M. De Die- Smulders MD  of the University of Maastricht at the yearly meeting organised in October 1996 by the “Werkgroep Dystrophia Myotonica” for patients and other people involved in myotonic dystrophy. This lecture was meant for the new participants of  this annual meeting.

 

Introduction

 

Myotonic Dystrophy (DM) is a  relatively frequently occurring, hereditary muscular disorder. Characteristic symptoms are myotonia (muscle stiffness due to muscles failing to relax properly)  and slowly  progressive muscle weakness, especially of the face-muscles, the throat- and neck-muscles and the muscles in the fore-arm and lower part of the legs. Other organs may also be affected. This manifests itself in  symptoms  as cataract, irregular heart-beat, slowness, loss of initiative and infertility in males. There may be a considerable variation in the severeness among patients. The age at onset of the disorder and the character of the symptoms are highly  depending upon the length of the expansion of the CTG repeat in the DM-gene.

 

Classification in four types according to age and main symptoms

 

1              Mild type

2              Adult (= classic) type

3              Childhood type

4              Congenital type  

 

Adult type (2)

Age at onset: 12 – 50 years

 

Initial symptoms:

Muscle weakness

Myotonia
 Later symptoms:

Increasing muscle weakness

Cataract

Slowness, loss of initiative

Defects in several organs
 

 

The adult (classic) type is the most frequently occurring type. Myotonia and muscle weakness develop from puberty till the age of 50. Myotonia is a painless muscle stiffness, notably affecting the hands after a firm grip. Complaints are: difficulties with letting loose a door-handle and after shaking hands or cramp when wringing out a cloth, especially in wintertime. The stiffness disappears spontaneously after a short time. Cold can evoke or stimulate this stiffness. Most patients are slightly troubled by myotonia and will not complain spontaneously about it.

The muscle weakness starts gradually and it may last for years before a patient consults a doctor. Weakness of  face-muscles appears at an early stage: The eyelids hang down and when the patient is asleep part of the white of the eye stays visible. It is no longer possible to laugh broadly. Speech gets indistinct and it looks like the patient speaks “through his nose”. The temples shrink by the jaw-muscles getting thinner. The weakness of the bending muscles of the neck is often pronounced. Patients cannot raise their heads when lying down. The loss of power  in the muscles of the fore-arm and hands makes together with the myotonia the hands clumsy. Regarding the muscles the lower part of the legs especially the raising of the feet is reduced: The patients start shuffling, stumble over minor roughness’ and fall more frequently. Sometimes next to these there are less specific complaints such as fatigue, lack of spirit, stomach-complaints or swallowing problems.

In a later stage of the disease the muscle weakness will increase and the muscles of the upper-arm and upper-part of the leg will be affected. Most patients however stay mobile if their radius of action is reduced till in and around their homes. Seldomly patients get bound to a wheelchair.  

 

Mild type (1)

 

Age at onset: over 50 years

 

Initial symptom:

Cataract

 
 Later symptoms:

Muscle weakness

Myotonia
 

The mild type starts after the age of 50. Most patients only get cataract. In a later stage mild muscle weakness and myotonia may appear. If the illness is unknown in the family it is seldom recognised that the cataract is part of a muscle-disease.

 

Congenital type (4)

During pregnancy:

Much amniotic fluid

Reduced fetal movements

 

At birth:

Muscle weakness

Problems with breathing and swallowing

Clubfeet

Weak  face-muscles

 

First year of life:

Muscle weakness decreases

Baby learns breathing and drinking by him/herself

Slower development
 After the first year of life:

Learn to walk  (2 – 5 years of age)

Learn to speak (sometimes indistinctly)

Get cleanly

Problems with learning

Squinting

Inflammation of the ears

Problems with bowels

 
 

 

The congenital type shows severe muscle weakness and decreased muscle strength at birth which leads to problems with breathing and swallowing. During pregnancy there is much amniotic fluid (because the baby does not  swallow) and the mother feels less stirring of the baby. A number of babies die because of breathing problems. If they survive they recover considerably from the muscle weakness during the first years of life, because of growth of the muscles. Indeed these children often have the characteristic tent-shaped mouth. The patients show a retarded motor development, which needs treatment by a physiotherapist. A majority of the children learns to walk between the age of 2 and 5 years. Bowel cramping and constipation often occur, just like inflammation of the inner ears. Besides there are problems with speaking, among others due to weakness of the palate. At adult age muscle stiffness and muscle weakness occur.

The mental retardation with this type is often mild to moderate. The children learn to speak and learn to take care of themselves, but mostly they do not learn to read and write. It is important to test the child in time and to choose the right type of school based on the testresults. Most children need special education. Take care that the child is not underestimated. Factors which may influence underestimation are the facial muscle weakness, the problems with speaking, poor hearing and slowness.

The congenital type is almost always passed on by an affected mother, seldom by an affected father.

Myotonic Dystrophy Behavior and Learning Issues with Children

MYOTONIC  DYSTROPHY: BEHAVIOUR AND LEARNING DIFFICULTIES WITH CHILDREN

 

Summary of the lecture delivered at the yearly meeting organised in October 1995 by the “Werkgroep Dystrophia Myotonica” for patients and other people involved in myotonic dystrophy. This lecture was prepared by S. Umans, J Steyaert and D. Willekens of Stichting Klinische Genetica Limburg, Maastricht and Centrum voor Menselijke Erfelijkheid, U.Z. Gasthuisberg, Leuven.

INTRODUCTION

The authors distinguish different types of myotonic dystrophy. Depending on the age when muscle complaints and other associated symptoms make their first appearance, they distinguish:

 

1) The mild type: often cataract is found at a relative young age without occurrence of other complaints.

2) The adult type affected with myotonia at adolescent age and having increasing muscle dystrophy between the age of 20 and 40 years.

3) With the juvenile type the patient as a child already has muscle-complaints and besides has learning- and speech-defects.

4) The early infantile type distinguishes itself from the juvenile type by the presence of light symptoms from birth on. These children show similarly to the congenital type feeding problems during their first year of life, in a lighter degree than the congenital type: Development difficulties (motor development, language, speech and learning difficulties at school).

5) The congenital type: the baby clearly suffers from serious muscle-weakness, as demonstrated by lack of foetal movements, problems with swallowing and respiratory problems at birth.

 

DESIGN OF THE RESEARCH PROGRAMME

 

Among adults having the adult type of myotonic dystrophy several studies were performed regarding intelligence and occurrence of depressions. The results prove that a number of persons with myotonic dystrophy have a lower IQ than expected. On the other hand up till now little literature is available dealing with the early infantile and the juvenile type and concerning the cognitive functioning and the possible emotional difficulties.

Therefore in Leuven and Maastricht in the centres for clinical genetics a research programme was started which probes for possible behaviour, learning and emotional difficulties within a group of children and adolescents having the congenital type, the early-infantile type and the juvenile type of myotonic dystrophy.

 

SUBJECTS

Up till now 8 girls and 7 boys between 7 and 18 years of age, were examined. Eleven of them were in their families the first known patients suffering from myotonic dystrophy; all of them were referred to the centre for clinical genetics because of a great variety of clinical problems. The remaining 4 children were their siblings and they themselves had some type of myotonic dystrophy.

Of these 15 children 3 had the congenital type, 5 had the early-infantile type and 7 had the juvenile type.

Within the group of the early infantile type the learning difficulties often were the first signal that alarmed the parents, thus causing diagnosis of myotonic dystrophy being made during the first years in the elementary school.

The intelligence was examined by the IQ-tests WISC-R or WAIS depending on their age. These intelligence tests examine the VIQ (Verbal Intelligence Quotient, this is the intelligence for which the language is needed) and the PIQ (Performance Intelligence Quotient, thinking with use of spatial insight without need of language). It is important to know that the average IQ of the population is 100.

Possible behaviour difficulties were investigated with the CBCL (Child Behaviour CheckList); this checklist was completed by the parents. It is a checklist with several items dealing with behaviour difficulties; the degree of occurrence is counted.

Possible occurrence of depression was examined in the older children by self-report questionnaires..

Children older than 12 years of age were asked to complete the Adolescent Temperament Questionnaire. This questionnaire produces a profile of and a rough idea on the temperament.

To investigate the occurrence of certain psychiatric problems typically related to children, their parents were interviewed with the help of a structured child-psychiatric interview: the Amsterdam Child-psychiatric Interview for Children and Adolescents (ADIKA), a Dutch version of the American DICA-questionnaire.

 

RESEARCH-RESULTS

 

INTELLIGENCE

 

The IQ’s of the subjects were between 50 and 95, with an average figure of 80. This figure is clearly below 100, the average IQ in the population. No clear difference could be established between the verbal and the performance part of the intelligence. The difference in disadvantage of the performance IQ, as found in some studies on adult patients with myotonic dystrophy, was not again found in this study of a small group of children.

 

Observations during the tests showed with 10 out of the 15 subjects concentration difficulties and a brief space of attention-time. In some children also other cognitive deficits were found ( among others: defects in spatial analytical thinking, wrong thinking-strategy etc.)

 

CHILD BEHAVIOUR CHECKLIST CBCL

 

The CBCL showed behaviour difficulties in the so-called clinical range in 5 out of 15 children.  Particularly withdrawal, social problems and attention-deficits were often found through this checklist. Four of these children present a child-psychiatric disorder.

With children with problems in accordance with the CBCL the internalising complaints (fearful, reserved, depressive) dominate the externalising complaints (hyperactive, oppositional, aggressive).

GROUP
 TEST

NO.

 
 SEX
 SIBLINGS
 PRESENT

AGE
 AGE AT

ONSET
 AGE AT

DIAGNOSIS
 CTG

REPEAT

SIZE (kb)
 AFFECTED

PARENT
 CTG REPEAT

SIZE PARENT

(kb)
 
Congenital
 1
 male
   
 10
 0
 4
 3
 mother
 unknown
 
Myotonic
 2
 female
   
 16
 0
 3
 3.6
 mother
 1
 
Dystrophy
 3
 female
 1
 18
 0
 7
 3.5
 mother
 0.5
 
 
 4
 female
   
 7
 3
 7
 1.6
 mother
 unknown
 
Infantile
 5
 male
 2
 9
 1
 7
 2.2
 mother
 0.35
 
Myotonic
 6
 female
 2
 10
 2
 8
 2.1
 mother
 0.35
 
Dystrophy
 7
 male
   
 11
 1
 8
 1.2
 father
 0.7
 
 
 8
 female
   
 17
 1
 3
 1.5
 mother
 1.4
 
 
 9
 female
 3
 11
 6
 9
 2.6
 mother
 0.3
 
 
 10
 female
 4
 12
 6
 3
 1.9
 father
 2.4
 
Juvenile
 11
 male
   
 12
 7
 4
 1
 father
 0.5
 
Myotonic
 12
 female
 1
 14
 6
 4
 2
 mother
 0.5
 
Dystrophy
 13
 male
 3
 14
 7
 11
 1.5
 mother
 0.3
 
 
 14
 male
   
 16
 7
 15
 1.8
 mother
 0.4
 
 
 15
 male
 4
 16
 9
 12
 1.9
 father
 2.4
 

 

DEPRESSION-SCALE

 

Two children showed depressive complaints on the depression-scale. Both these 2 children as some others, had to face several problems during their school-career: Low results from the beginning of the elementary school, being bullied and transfer to special education. These events represent important psychosocial stress factors, which can cause depressive complaints.

 

TEMPERAMENT-CHECKLIST

The results on the Adolescent Temperament Questionnaire were varying and showed no specific profile.

 

CHILD-PSYCHIATRIC INTERVIEW

The child-psychiatric interview showed with 9 out of the 15 subjects child-psychiatric problems. This figure is substantially higher than the figure found in the population.

Five children had Attention Deficit and Hyperactivity Disorder (ADHD). This is a disorder with the symptoms: concentration and impulsivity deficit and hyperactivity. In the whole group parents often mentioned impulsive behaviour and attention deficits, even in children who did not meet all the criteria for Attention Deficit and Hyperactivity Disorder.

Two children had a separation-anxiety disorder (difficulties with loosening themselves from their parents, which manifests itself in unruly behaviour at moments of separation and continuing concern about and fear of loosing their parents or that they will be harmed.

One child had a general anxiety disorder (extreme concern, afraid of making mistakes and fear connected with events in the future and past)

One child had an adjustment disorder with depressive mood, which is a result of poor performance at school and being bullied.

 

CONCLUSION

For the time being it is premature to jump to conclusions based on this research in this small group. The results of the assessment of the intelligence confirm earlier research in  adults with the adult type of myotonic dystrophy. This research showed that several persons with myotonic dystrophy have a lower IQ  than the population- mean. Besides, some children with myotonic dystrophy have attention deficits which interfere in their functioning at school.

Striking in this pilot study is the frequent occurrence of child-psychiatric disorders. It must be mentioned that these results were obtained by means of structured interviews. At the same time most children were in their families the first known patients having myotonic dystrophy, which means that within the group there were lots of physical problems. Within this context we should interpret these results.

It has to be stated that these findings should be checked within a larger group of children and the findings should be compared with a group of children suffering from another chronic disease before we can get more decisive conclusions.