Myotonic Dystrophy Booklet Vermont Genetics

MYOTONIC DYSTROPHY BOOKLET

(EDITORS NOTE THIS IS AN OLDER PAMPHLET UPDATED INFORMATION IS IN BOLD)
MYOTONIC DYSTROPHY An informational booklet for individuals and families
Written by: Wendy C. McKinnon, M.S., Genetic Counselor Vermont Regional Genetics Center
Introduction

This booklet is written for individuals and families with Myotonic Dystrophy, also known as Steinert’s disease or Dystrophia Myotonica (DM). The booklet describes what DOM is, how it is inherited, and recent discoveries about DM.

DM is an inherited disorder that affects about one in every 8000 people. In general, DM consists of muscle weakness and myotonia (inability of muscles to relax after use) which gets more severe over time. Specific problems in other systems of the body can also occur. Since DM can affect many tissues and organs it is called a “multisystem” disorder.

Myotonic Dystrophy is an extremely variable condition. It can vary in severity, the systems of the body it affects, and the age of onset, even in the same family. People with milder symptoms may never require special medical attention and thus never be diagnosed as having DM. On the other hand, newborn babies who are more severely affected may die during infancy without the diagnosis of DM ever having been made. If a newborn is diagnosed with DM, this may be the first time the family learns about the condition. Recent discovery of the gene alteration which causes DM helps explain this condition’s incredible variation.

What are the clinical features of Myotonic Dystrophy?

It is important to realize that any one individual with DM is unlikely to have all of the features described here, but will probably have some of them and these may vary greatly from one individual to another.

Personal Stories ::: What are the clinical features of Myotonic Dystrophy?
It is important to realize that any one individual with DM is unlikely to have all of the features described here, but will probably have some of them and these may vary greatly from one individual to another.

DM primarily affects muscles and these will be described first. Myotonia refers to the slow relaxation of muscle following contraction, resulting in muscle stiffness. For example, following a forceful grip, the individual with DM may have delayed release of their grip. This may cause difficulty in releasing objects such as door handles, cups, tools, or bowling balls. Cold weather can make this worse. While myotonia is most obvious in the hands, it can affect other muscles as well. Some individuals with DM have little or no myotonia. Myotonia can be confirmed by an Electromyogram (EMG). An electromyogram involves insertion of a fine needle into the muscle and recording electrical activity, looking for evidence of myotonia.

Facial muscle weakness can be one of the earliest and most constant features of DM. There may be weakness and lack of movement of the facial muscles. Some individuals with DM are unable to whistle or retain air in their cheeks. Some people with DM describe difficulty drinking through a straw or blowing up a balloon, or getting food stuck in their cheeks. Facial muscle weakness may also make it difficult to smile.The muscles of the eyes can be weak, resulting in a “droopiness” of the eyelids which is called ptosis.Involvement of jaw muscles may give the face a hollow cheek appearance. More severe jaw muscle weakness may cause the jaw to hang open, dislocation of the jaw, locking of the jaw, difficulty in chewing, or “clicking” of the jaw.

The sternocleidomastoids are muscles in the neck and shoulder. Some people with DM have trouble lifting their head when they get out of bed due to weakness in these muscles. In addition, weakness of the shoulder muscles makes it difficult for some individuals with DM to lift their arms over their head for an extended period.DM commonly involves the distal (end) limb muscles. These include the forearm and hand muscles, as well as the muscles of the feet and ankles. Weakness of the hand and forearm can affect coordination and grip. Symptoms might include difficulty opening jars or holding small objects tightly. Weakness in the muscles of the feet and ankle may result in unsteady gait, tripping or stumbling.

What other muscles are affected in DM?

Speech requires the coordination of the muscles of the voice box (larynx), the throat , the tongue, the lips, and the roof of the mouth (palate). If any of these muscles are affected by DM, speech may sound slurred or indistinct. It is also common for individuals with DM to have somewhat “nasal” speech.

Speech requires the coordination of the muscles of the voice box (larynx), the throat , the tongue, the lips, and the roof of the mouth (palate). If any of these muscles are affected by DM, speech may sound slurred or indistinct. It is also common for individuals with DM to have somewhat “nasal” speech.

In the digestive tract, the muscles of the pharynx and the esophagus are primarily affected. The pharynx is the first passageway food moves through on its way from the mouth to the stomach, and the esophagus is the tube connecting the pharynx to the stomach.

Dysphagia is the term used to describe difficulty in swallowing which is common in DM. This is due to the muscles of the pharynx and esophagus having difficultly contracting and relaxing which creates difficulty swallowing and delays the entry of food into the stomach. Some individuals describe dysphagia as a sensation of “sticking” of food in the throat. Difficulty swallowing can sometimes be understood better with a barium swallow examination or esophageal pressure recordings. Eating and drinking small quantities slowly may help dysphagia.Individuals with DM may have an increased chance of gallstones.

The respiratory system includes the trachea, the lungs and the diaphragm. The trachea is the tube that carries the air we breathe from the mouth and nose to the lungs. The lungs transfer oxygen from the air we breathe to the blood. The diaphragm is the muscle just below the lungs which expands and contracts with each breath. There can be weakness of the respiratory muscles in DM. Also, as discussed earlier, weakness in the muscles of the pharynx and esophagus can cause delayed entry of food into the stomach. This delay, combined with weakness of the respiratory muscles, can result in entry (aspiration) of food into the lungs. This can lead to infections in the lungs, including pneumonia. Avoiding hurried meals or large meals at night and elevating the head during sleep may help prevent this problem.Hypoventilation refers to shallow breathing and is due to abnormalities in respiratory muscle function. Smoking worsens breathing difficulties.

How are the heart and blood vessels affected?

There is nothing unusual about the structure of the heart muscles in individuals with DM. However, there can be abnormalities in how the heart beats. An irregular beat is referred to as a cardiac arrhythmia. Some people have no symptoms as a result of a cardiac arrhythmia. Other people have palpitations (“fluttering”), chest pain or tightness.

What other systems are affected by DM?

Individuals with DM can have abnormalities of the endocrine system. The endocrine system consists of a number of glands that produce substances called hormones which are carried by the bloodstream to various parts of the body.

What is the age of onset of Myotonic Dystrophy?

Symptoms of DM can first occur at various ages. In fact, there appear to be four stages of onset: congenital (at birth), juvenile (childhood), classic (20-40 years) and late (after 40 years of age).

Symptoms of DM can first occur at various ages. In fact, there appear to be four stages of onset: congenital (at birth), juvenile (childhood), classic (20-40 years) and late (after 40 years of age).
Congenital DM refers to the presence of symptoms in the first month of life. The major features may include facial weakness, hypotonia (low muscle tone), respiratory problems, feeding difficulties, talipes (clubfoot). Delays in motor skills such as rolling over, crawling, and walking may also occur. Some degree of mental impairment will occur in individuals with congenital DM. For reasons not yet clearly understood, congenital DM almost never occurs unless the baby’s mother has DM herself – although she may have only a mild version of DM.

Occasionally, a woman with DM may notice decreased fetal movements during pregnancy because the fetal muscles may be affected. In addition, polyhydramnios (increased amounts of amniotic fluid surrounding the fetus) may occur. A fetus normally swallows and urinates amniotic fluid continually. In a fetus exhibiting symptoms of DM, there may be difficulty swallowing, allowing extra amniotic fluid to accumulate. Juvenile DM has its onset between the ages of 1 and 20 years, and classic DM has onset between 21 and 40 years of age. Symptoms in these often consist of muscle weakness, myotonia, and possible involvement of other organ systems. There may also be an increased chance of learning problems in school.

The mildest form of DM first occurs after the age of 40 years and is usually accompanied by cataracts. Some minor muscle problems such as jaw tightness or cramps in the hands may be present, or there may be no muscle problems at all.There is wide variability in the age of onset and the severity of the condition. Individuals who develop symptoms early in life will likely have a more severe form of DM; while those whose symptoms do not appear until later usually have a milder form.

The genetic nature of Myotonic Dystrophy

DM is caused by a genetic alteration in the myotonin protein kinase gene located on chromosome 19. Since our chromosomes come in pairs, we have two copies of the myotonin protein kinase gene. A person with DM has a genetic change or alteration in one of their two copies of this gene.

DM is an autosomal dominant condition – only one copy of the gene with the genetic alteration is necessary for DM to occur. DM affects both males and females equally; however, females with DM are much more likely to have a child with congenital DM than are males with DM.

The inheritance of DM follows an autosomal dominant inheritance pattern as illustrated. An individual with the genetic alteration found in DM has a 50% chance of passing on the genetically altered myotonin protein kinase gene to any child.

A child who has inherited the genetically altered myotonin protein kinase gene will develop some or many features of DM. Their age of onset may be the same or different from the parent’s.

 

What is the genetic alteration in the myotonin protein kinase gene?

The genetic alteration found in the myotonin protein kinase gene is a repeating sequence of three specific nucleotides (the building blocks which make up DNA, which in turn make up genes).

Can the clinical features vary from person to person in the same family?

Problems can range from very mild to very severe even within the same family, and it is not always obvious who in the family has the DM gene alteration.

What if a doctor suspects an individual has Myotonic Dystrophy

If a doctor suspects that an individual has DM because features of the condition are present, genetic testing may be performed to confirm the diagnosis. Genetic testing involves obtaining about two teaspoons of blood. DNA is isolated from blood cells and then the number of CTG repeats in the DM gene can be determined. Testing takes an average of 2-3 weeks. Its cost varies somewhat but in 1994 is approximately $300.00
What if an individual has no clinical features of DM but has a family history of DM?

If an individual diagnosed with DM is identified as having the CTG repeat expansion, a family member who has no features of the condition may also consider having genetic testing.

What about having children?

When one member of a couple has DM, there are a number of options available when thinking about having children.When one member of a couple has DM, there are a number of options available when thinking about having children.
A couple can choose to have children and not have prenatal testing. If a couple decides not to have prenatal testing, they should inform the obstetrician and pediatrician of the family history. If the fetus inherits the DM gene, there could be complications during the pregnancy and/or in the newborn period.

A couple can choose to have a pregnancy and have prenatal testing for DM by either amniocentesis or chorionic villus sampling to find out if the fetus has inherited the DM gene. Prenatal testing is described in the next section.

A couple can choose to adopt children because they want to significantly reduce the chance of having a child with DM.

A couple can choose to use sperm from an unaffected donor when a man has DM, or an egg from an unaffected donor when a woman has DM. This would significantly reduce the chance of having a child with DM.

Now available a couple can choose to have pre-implant diagnosis and then invitro fertilization. The egg is fertilized outside of the body, then tested to see if it has the myotonic dystrophy gene. Only healthy non Myotonic dystrophy embryos are then implanted into the women’s uterus for development.

It is important to remember that there is no right or wrong choice to make with regards to having children. Everybody has different experiences, thoughts, ideas, and opinions about the various options available.

 

Prenatal Diagnosis

Prenatal diagnosis is available to couples who would like to know during a pregnancy whether their fetus has inherited the DM gene from an affected parent. Prenatal diagnosis can be discussed with a genetic counselor. Pre-Implant Diagnosis is also available

Genetic Counseling

Genetic counseling is often useful for individuals and families with questions and concerns about specific genetic conditions

Treatments

There are no specific treatments currently available for individuals with DM. It is hoped that with advances in research, a better understanding of the underlying cause of DM will lead to specific treatments for its symptoms. Medications are available that your doctor can prescribe to reduce myotonia, especially if it interferes with daily activities. Physical therapy and occupational therapy, as well as regular exercise may help minimize the progression of muscle weakness. Ankle and leg braces may help support these muscles.Drug Treatments are underdevelopment by Isis Pharmaceuticals and others. These treatments will not be commercially available until 2017 or 2018 at the earliest.
Additional Resources

Myotonic Dystrophy Foundation
Menlo Park, CA USA
Muscular Dystrophy Association (MDA)
National Headquarters
3300 East Sunrise Drive
Tucson, AZ 85718-3208
Telephone (602) 529-2000 / Fax (602) 529-5300 The National Society of Genetic Counselors (NSGC)
Executive Office
233 Canterbury Drive
Wallingford, PA 19086
Telephone (610) 872-7608

Fatigue – Summary Information from Netherlands

Summary of Condition from Netherlands Task Force ::: FATIGUE
Summary of the lecture delivered by Professor Dr. A.R. Wintzen of the University of Leiden at the yearly meeting organised in October 1995 by the “Werkgroep Dystrophia Myotonica” for patients and other people involved in myotonic dystrophy

Complaints of fatigue are often heard and are not particularly related to muscular diseases; with many diseases fatigue is one of the symptoms. At the same time fatigue is a normal phenomenon with healthy people. Fatigue is mentioned with and without lack of sleep, with and without preceding “fatiguing” pursuits. Often “I am tired” means “I just don’t feel like it”. In daily life the word “tired” is used for a variety of situations with few correspondence.How about fatigue with people suffering from myotonic dystrophy? This disease is attended with muscle-weakness and if this weakness is substantial many things such as walking get more fatiguing. Yet this is not the type of fatigue patients or their inmates do complain about. There are two different problems which probably are related.

The first problem is an increased need for sleep, which often manifests itself in long sleeping or in taking a nap in daytime. It is noteworthy that the patients themselves feel it as “normal” or “just necessary” while inmates consider it as “too much”.

The second problem is that many patients often think it is difficult to settle down to something. The description of this feeling resembles strongly the feeling of all people at the end of a busy day: the spirit is gone and to-morrow is another day. But patients with myotonic dystrophy often feel like it before anything is done. For the (healthy) partner this is difficult to understand and it often causes resentful reactions.

Is there a background-reason? Research proofed that the cause is situated in those parts of the brain that define the rhythm of sleeping and waking. It is likely that the personal rhythm with myotonic dystrophy is rather “flat”, few difference between the mountains and the valleys. This causes a situation in which, expressing it exaggerated, you are always able to sleep and never really feel energetic. Besides it seems difficult to make the personal rhythm correspond with the surrounding world

How to cope with these problems? Before proceeding: At this very moment there is no general remedy. Nevertheless there is more to tell about it.An important starting-point in this is, that many patients discovered by themselves that a regular personal daily rhythm can be of great benefit. This means: getting up and going to bed at fixed times, irrespective of needs. This also applies to a holiday and the weekend. A “must” is found to be of help, for instance in case of a job or a fixed agreement. Some support can be found in medical treatment with a low dose of Efidrine, for instance once or twice a day 25 mg, in some cases a little bit more. With this dose there is no need for fearing subsidiary effects; but it can be helpful in suppressing the inconvenient drowsiness. It should not be taken late in the day because then is may hamper getting asleep. In the Netherlands this medicine no longer is registered; it is obtainable in the neat shape and in capsules.

Otitis media. – Ear infections

 
OTITIS MEDIA(OM)
OTITIS MEDIA(OM)
Is currently the most common childhood disease with peak incidence in the first two years of life. Although OM during childhood is nearly universal, about 5-20% of children have recurrent OM and chronic OME. Besides age, several characteristics have been identified as risk factors of OM, including male gender, Caucasian, and Native American race, and family history of OM. Children with CMD are at risk for OM. Why is this? Two theories. One is that the growth of the skull with Children with CMD may affect the drainage of the ear. The other theory is that the muscle that regulates the Eustachian tube does not function properly. The Eustachian tube has 3 principal functions of

 Allowing air into the ear to ventilate
 Protection of the ear  (closing tube off)
 Allowing fluids to drain from the ear

It is still not know why ear infections continue to plague children with CMD.

 

Defined: Otitis Media (Ear infection) is defined as an inflammation of the middle ear.

Recurrent Otitis Media: There are several definitions.. Three episodes of OM before age 1,3, 0r 7……..Six or more episodes before age 6…… six or more episodes in a 12 month period

Otitis Media  can be observed in children with and without symptoms. The most common symptoms will be related to respiratory infections. Other symptoms may include earache, loss of appetite, fever, restless, sleeplessness

Antibiotic Treatment:

Antibiotic treatment is becoming more complex and more bacteria have a high level resistance or reduced susceptibility to commonly employed antibiotics.  Children may also benefit from antibiotics given prophylacticly (as a precaution against infection returning) Sulfoamides and Amoxicillin would be the two agents of choice according to   Roberts. Amoxicillin should be restricted, however, as it might promote resistant bacteria. Sulfoamides showed an 86% reduction in OM in one study.

Surgery-Placing Ear Tubes

Myringotomy with Tympanostomy tube insertion is the most common surgical procedure performed in children requiring general anesthesia. The reported rate of Myringotomy in 1986 in USA was 58,000 cases. The procedure is basic to cut a small slit in the eardrum and to insert a small tube to allow for ventilation and drainage. The procedure is almost without pain. For older folks who can hold still it can be done without a general anesthetic. For kids a general anesthetic is required in most cases. The tube will stay in for about 6 moths unless a long term tube is inserted,

Indications for Surgery: Recurrent Otitis Media refractory (not responding to) to antibiotic therapy, persistent OEM for greater than 3 months with associated hearing loss greater than 20dB

Tubes can be of Short term or long term insertion. Longer term tubes might be indicated if recurrent Otitis Media continues to occur. There are some downsides to longer term insertion though. Some studies follow on long term tube

 

Management of Otitis Media for CMD

First parents must be very diligent in reviewing this problem  as the chance for Ear Infections is very high. Sometimes the children will not report the symptoms with OM. My son Christopher for example we find out that he has this condition when he stops eating, is listless, and has a temperature. When we even suspect this we make sure that he is seen that same day and antibiotics started.

Chris has had 5 sets of ear tubes put in all of the short variety. These seem to immediately clear up his ear infections. However, they have only stayed in for a short period of time and then they disappear. You have to be careful about getting water in the ear with swimming and showering. Chris had the more secure T tubes placed when he was 9. These work well and will stay in for a longer period of time

 

Hints: Find a hospital and doctor that is willing to work with you. You will need to educate them on this subject and particularly that kids with CMD have high susceptibility to this disease. We knew very often that Chris would have an ear infection and would make an immediate that day appointment with the pediatrician.

For Surgery find a kid friendly hospital. We have gone to two hospitals. One required a lot of pre surgical workup including drawing blood. Chris has tiny veins and it was much more traumatic to draw the blood than to have the surgery. Find a center that does not require this for young kids with ear tubes.

Remember that you can do ear tubes in a doctors office and it is a relatively easy procedure. You just can move at all during the procedure. Therefore kids have to be put under anesthesia. But the procedure only takes 5-10 minutes at most.

So insist on some kid friendly procedures or find another center!

 

Make sure that you are actively managing your children’s medical care and that the doctor knows that CMD has a high correlation with ear infections.

Long-term middle ear ventilation with T tubes: The perforation problem

 

By Richard L. Goode, MD, Stanford, California

Some 1 million ventilation tube insertions are performed each year in the United States. The majority of these are for otitis media with effusion (OME) in children using tubes that remain in place for an average of 6 to 8 months. Because the failure rate of these short-term tubes is approximately 20%, the otolaryngologist must decide in unsuccessful cases whether to again try medical treatment, reinsert a short-term tube, or switch to a long-term tube, such as a T tube, which will remain in place an average of 36 months. By arbitrary definition, short-term tubes are those that remain in place for less than 12 months, whereas long-term tubes remain longer than 12 months, usually an average of 24 to 36 months.

Although the obvious surgical solution to failure of a short-term tube is to increase ventilation time by inserting a long-term tube, long-term tubes produce certain complications that increase with time; the most serious of these is permanent tympanic membrane (TM) perforation after removal or extrusion of the tube. Although this outcome may be desirable in some cases, it usually requires later closure with a myringoplasty after recovery of eustachian tube function.

There are a number of reports in the literature on the incidence of permanent TM perforation after long-term (years) middle ear ventilation with the T tube. In 12 studies the incidence of this complication varied from 3.0% to 47.5% (3.0% and 3.8% in 2, 5.5% to 7.1% in 6,12.0%to 16.7% in 3, and 47.5% in 1 study), with a mean of 11.5%. If we eliminate the lowest (3%)and the highest (47.5%) studies, the mean is 8.8%. This is significantly higher than the 0.5%to 2.0% perforation incidence reported for short-term tubes (although in some series the incidence is much higher).

Although the reasons for the differences between series are not clear, some principles are evident that can be applied to achieve a low incidence of perforation.

Status of the TM

Insertion of a T tube through a damaged TM, because of either previous tube placement or middle ear disease, appears to produce a higher incidence of perforation. Matt et al. found a 0% perforation incidence when the TM was minimally retracted and a 21% incidence with marked TM retraction. If at all possible, the T tube should be inserted through a normal area of the TM; if the entire TM is abnormal, a higher incidence of early extrusion and perforation should be expected.

Duration of Ventilation

In individual OME cases, the minimum ventilation time needed to achieve a cure is not known. This is particularly true when a previous tube has failed, presumably because it came out too soon. This suggests that a longer ventilation time is required but does not define how long. Because the incidence of perforation increases the longer a tube is in place, another way to decrease this complication is to remove the T tube sooner than the average 36 month retention time. What is a reasonable treatment time that is likely to be successful with an acceptable perforation incidence? In the usual case, I would suggest 18 months as the time to consider removal. This period is about three times longer than the average duration of a short-term tube and would be expected to produce a perforation incidence about three times that of a short-term tube, around 4% to 6%, all else being equal. In my opinion, this is an acceptably low perforation rate. After this time period, the incidence gradually increases to the 8.8% level (average of 10 studies previously noted) at 24 to 36 months and then levels off.

Inglis et al. found that the average time for T tube retention in ears with no perforations was 17.5 months, whereas the average time in the perforation group was 21.5 months. They also recommended consideration of removal at 18 months.

Because the T tube has the unique property that it can usually he removed painlessly in the office without anesthesia, its duration is under the control of the physician. Unfortunately, it may not be obvious whether 18 months is an adequate duration so that tube removal is not followed by another recurrence of OME. In many cases it may be wiser to warn the parents of the increasing complication rate but to leave the tubes in place. Moving the tubes from one TM site to another at 18 months is a consideration but would require another anesthetic.

Other factors are important in this decision, including age, size, other tube complications (drainage, plugging), time of year, and so forth. Regular eustachian tube testing during the ventilation period has been advocated by some authors to determine whether adequate function has returned. Although such testing can be helpful in the removal decision, repeated eustachian tube testing is not routinely used.

Early summer is a good time for removal because OME and upper respiratory infections are less common and water sports are more popular. In bilateral cases one tube can be removed at a time; the second tube is removed 4 to 6 weeks later if the first ear is doing well. If the

OME recurs, the tubes are reinserted at a different site in the TM.

Not All T tubes Are Alike

The “softness” of the tube and the length of the flanges can be factors and may differ from manufacturer to manufacturer. For example, silicone rubber can vary from a durometer of 15 or so (soft) to 45 (hard); softer and shorter flanges appear to produce less damage to the TM on extrusion. Although no definitive data are available, it is my impression that the average retention time correlates well with flange length; shortening the flange length by half, from 4 to 2 mm, decreases retention time by half, all else being equal. This would decrease the T tube average retention time from 36 to 18 months. A tube with 3-mm flanges would remain in place for 27 months, whereas a tube with 1.5-mm flanges would remain in place for about 13 months.

Removal Versus Extrusion

Removal of T tubes appears to produce fewer perforations than extrusion. Matt et al. found a 0% incidence of perforation when T tubes were removed, rather than allowed to extrude. Removing a tube earlier rather then waiting for later extrusion may be more important than increased TM trauma caused by extrusion.

Risk/Cost Considerations

In adults, tubes can be inserted at the physician’s office with the patient under local or topical anesthesia, so cost and risk are relatively low. This is not the case in young children or infants, in whom a general anesthetic and surgical facility are required, increasing the risk and cost. The goal is to produce a cure with a minimal number of procedures. Certainly two or more short-term tube insertions are not as desirable as one long-term tube insertion,assuming the same cure rate. Are two short-term tube insertions much different from one long-term tube insertion and a later fat plug or fascia myringoplasty? Assuming two general anesthetics in each case, the difference to the patient may be small. Cost may vary depending on whether a “package deal” is available for tube insertion but not for myringoplasty.

OME cases suspected of requiring long-term ventilation for cure (children younger than 2years and children with craniofacial anomalies, cleft palates, allergies, etc.) should have along-term tube inserted as the primary tube to minimize the failure rate. As the risk of perforation increases with time, the tubes can be moved, removed, or left in place, depending on the ease.

In summary, I suggest that the best treatment solution after failure of a short-term tube for OME in children is to insert a soft-flanged T tube, ideally though a normal area of the TM, and to reassess it at 6-month intervals regarding need. Shortening the flanges to 2 to 3 mm maybe advantageous in some cases. At around 18 months, assuming no evidence of continuing eustachian tube dysfunction, tube removal in the office can be considered and discussed with the parents. If perforation rates greater than 4% to 6% are considered too high, the tubes can be removed; otherwise they should stay until the physician believes a cure has been obtained. It is hoped that with improved eustachian tube testing, identification of when a tube can be removed will become a science rather than an art, as it is now.

 

Lowering the Incidence of Perforation Following Goode T-Tube Removal

Presented at the American Society of Pediatric Otolaryngology Annual Meeting May 19th,

1990, Toronto, Canada

by Andrew F. Inglis, Jr., M.D.; Mark A. Richardson, M.D.; Taya S. Higgins, R.N.

Abstract

A recent report has described an alarmingly high incidence (12%) of tympanic membrane perforation following T-tube insertion. This prompted a prospective study of our experience. All patients at Children’s Hospital and Medical Center undergoing elective removal of T-tubes by the first author between 6/1/89 and 8/31/89 were evaluated for tympanic membrane perforations. In cases where spontaneous extrusion occurred in the contralateral ear, the findings in these ears were included as well. Follow-up was performed at one month in all patients and at three months in patients with tympanic membrane perforations. One hundred four (104) ears completed the study. Seven ears had persistent perforations, for a perforation rate of 6.7%. One of these perforated ears had a mild (22dB PTA) hearing loss. Our current indication for T-tube placement and potential mechanisms leading to the formation of tympanic membrane perforations following T-tube removal will be discussed. We attribute our lowered incidence of perforation to two factors which greatly reduced the trauma to the tympanic membrane following T-tube removal: first, we used a soft silastic tube with short flanges: second, prior to T-tube removal, we pre-treated the ear with a non-ototoxic antibiotic eyedrop for three days to soften the adhesive crust which forms between the tube and the tympanic membrane.

Tympanostomy tube placement is an effective surgical procedure for reducing the incidence of recurrent acute otitis media, and for reversing the hearing loss of otitis media with effusion. Several styles of tympanostomy tubes are available but they generally fall into one of two categories: 1) those which usually extrude spontaneously and 2) those which usually require removal following presumed maturation of the patient’s immune system and eustachian tube function. Soft silicone T-tubes (SSTT) fall in the latter category. They have the advantages of a relatively low spontaneous extrusion rate and removal that can be simply and safely performed in the office. The main disadvantage of these tubes is the previously reported high rate (12%) of residual tympanic membrane™ perforations following removal. This report instigated our own investigation.

Materials & Methods

Fifty-eight consecutive patients undergoing elective removal of SSTT’s between 6/1/89 and 8/31/89 were enrolled in the study. The overwhelming majority of these patients had undergone SSTT placement with short-flanged soft silicone Goode T-tubes (Medco Catalogue Number T5030) which were shortened to about 3 mm. intraoperatively prior SSTT tube insertion. Ears were pre-treated for three days immediately prior to SSTT removal with Sulfacetamidel prednisolone (Blephamide®) ophthalmic drops three times daily and just before entering the exam room. Patients were restrained as necessary and the SSTT’s were visualized with an operating microscope and removed with cup forceps. The integrity of the TM was checked one month following SSTT removal. Patients with intact TM’s had an audiogram at this time, if requested by the family. Patients with residual perforations were asked to continue water precautions and a follow-up examination was performed in another two months. The integrity of the TM was reassessed and audiograms were obtained. Patients were considered to have a residual perforation if the TM had not healed by the second follow-up visit, or if the TM had not healed at the first follow-up visit and they failed their  second appointment. Patients were excluded who failed all follow-up. In two instances, because of great traveling distances involved, follow-up was obtained by telephoning the patients’ private physicians. There were a few instances of spontaneous extrusion of the tube in the contralateral ear. The findings in these ears were also included in the study.

TABLE 1

Patients Entering Study:

N=58

Patients Completing Study:

N=52

Healed TM’s:

N=97 (93.30%)

Residual Perforations:

N=7 (6.7%)

Average PTA of Perforated TM’s:

15 dB

Average PTA of Contralateral, Healed TM’s:

14.5 dB

Average Intubation in Healed TM’s:

17.5 mos. (7-40 mos.)

Average Intubation in Perforated TM’s:

21.5 mos. (10-40 mos.)

Spontaneous Extrusions:

N=10 (9.60/0)

 

 

Results

Results are summarized in the table above (Table 1). A total of 58 patients with 115 ears were entered into the study. One hundred and four ears met our criteria for completing the study. There were no instances of significant trauma to the ear canal or TM from patient movement during removal. Ninety seven (93.3%) TM’s were intact at the completion of the study. There were seven ears (6.7%) with residual perforations. Of these, two failed their second follow-up visit. Only one ear with a residual perforation had a PTA of greater than 20 dB. This patient’s PTA was 22. The average PTA in ears with residual perforations was 15 dB, and the average PTA of the contralateral healed TM’s was 14.5 dB. In one patient, hearing in the healed ear was worse because of ongoing Eustachian tube dysfunction. Due to failed appointments, three ears with residual perforations were not tested audiometrically. The average age of the patient at the time of tube insertion in the patients with intact TM’s was 25.0 months and in patients with residual perforations was 24.5 months. The average length of time that the SSTT remained in TM’s which eventually healed was 17.5 months (range 7 months to 40 months) compared with 21.5 months (range 10 months to 40 months) in patients with residual perforations. There were 10 ears in which a spontaneous extrusion occurred. This represented an extrusion rate of 9.6%. None of these ears had residual perforations.

Discussion

As previously mentioned, SSTT’s have the distinction of being easily removable in an office setting with a low spontaneous extrusion rate. As Dr. Goode has pointed out, this is advantageous both when the anticipated need for adjuvant middle ear ventilation is on a short or long-term basis. This tube most closely approaches the ideal situation where intubation time is determined by the otologist rather than the vagaries of spontaneous extrusion.  For most indications, we find a tube with a 12% rate of residual perforation, as previously= reported, unacceptably high.

However, lower rates of residual perforation can be achieved. We attribute our lower rate of residual perforation to our efforts to reduce the tube trauma to the TM. This includes the use of soft silicone style ear tubes with shortened flanges and the care taken to soften the adhesive crust which forms between the ear tube and the tympanic membrane prior to removal of the tube.

Tube re-insertion rates should be markedly decreased with a longer-acting tube. In general, around 20% of patients will require multiple insertions when using spontaneously-extruding tympanostomy tubes. We believe this is in part because of the relatively short tube retention time of tubes such as the Shepard, Armstrong, or Donaldson variety. Over 40 % of the formern two tube types will be extruded in nine months. When SSTT’s are inserted in the young.ear patient for recurrent acute otitis media, one can generally count on the patient’s middle ears remaining ventilated through two consecutive otitis media (winter) seasons. This is not the case with the spontaneously extruding tubes. The overall incidence for re-operation (either repeat ear tube placement or closure of a residual perforation) is probably reduced in select populations when the longer acting SSTT’s are used.  The residual perforation left following removal of SSTT’s is generally not a severe  a few decibels of hearing loss. The perforation assures continued ventilation of the middle ear space, and in cases of unilateral residual perforation, the perforated ear may be more trouble-free than the opposite ear. Corrective myringoplasty generally requires only a fat patch technique and can occasionally be performed in the office. The main drawback to a residual perforation is the need for continued water precautions until the patient’s eustachian tube function enough to promote a high rate of successful myringoplasty.

The factors causing the higher incidence of tympanic membrane perforation with SSTT’s are unclear. Spontaneously-extruding tympanostomy tubes achieve extrusion and TM integrity simultaneously. With SSTT’s, these events are separate. Another factor is the length of the time that the ear is intubated. The longer intubation time obtained with SSTT’s may encourage maturation or stabilization of the mucocutaneous junction of the perforation preventing healing of the TM following SSTT removal. We now generally limit our intubation time to 18 months. Another cause of residual perforation may be the actual trauma of SSTT removal. There usually is an adherent crust connecting the TM to the SSTT. Before our practice of dissolving or at least softening this crust with eyedrops, large portions of the TM were frequently avulsed during tube removal. This rarely occurs following proper softening of the crust. A further source of trauma may be from the stiffer plastic and longer flanges used in other forms of T-tubes prompting our use of softer short-flanged tubes.

There is an unusual situation which uniformly results in a residual perforation. Following a bout of otitis media, the TM may fail to heal around the shaft of the SSTT and on exam the tympanostomy tube appears to be located within a larger perforation. The etiology is obscure, but may be related to partial necrosis of a vulnerable TM area during the infection.  Given our experience with a lower incidence of residual perforation and the prospect of reducing reintubation, we have the following indications for SSTT usage:

1.Patients with craniofacial abnormalities such as cleft palate in whom long-term middle ear ventilation requirements are anticipated;

2.Patients under one year of age with recurrent acute otitis media (we anticipate the need for adjuvant middle ear ventilation will be at least two winter seasons in these patients);

3.Patients who have a history of worsening of recurrent acute otitis media in the winter months yet require ear tube placement in the late winter, spring, or early summer thus increasing the likelihood the middle ear will remain ventilated through the following winter

4.Patients with attenuated or atelectatic TM’s in whom long-term middle ear ventilation is anticipated.

 

Surgery-Placing Ear Tubes
Indications for Surgery:
Management of Otitis Media for CMD
Long-term middle ear ventilation with T tubes: The perforation problem
Lowering the Incidence of Perforation Following Goode T-Tube Removal

Skin problems

Patient with DM have complained about Skin Problems. Here we will try to answer information about Skin problems and provide more information.

A Case of Myotonic Dystrophy Complicated with
Raynaud’s Phenomenon

S. Fujimaki, A. Kurihara, K. Tamura and Z. Shiozawa

We reported a case of myotonic dystrophy complicated with Raynaud’s phenomenon. The patient was a 66-year-old male, who was admitted to our hospital with complaints of muscle atrophy, general fatigue and coldness of the hands. He noted muscle power loss about 20-years ago and later developed felt urinary incontinence, constipation, dysphagia, hoarseness and muscle atrophy. The diagnosis of myotonic dystrophy was confirmed by EMG and the biopsy of M.biceps brachii. By the cold stress test and blood analysis, he was diagnosed as Raynaud’s disease. The findings indicate that Raynaud’s phenomenon is included in the clinical feature of myotonic dystrophy. This phenomenon was the rare manifestation of smooth muscle involvement by myotonic dystrophy.
Tissue or System Affected

Symptoms

Eye
-cataracts
-changes in retinal pigmentation

Endocrine system
-testicular atrophy leading to reduced fertility
-insulin resistance
-pituitary dysfunction
-hyperparathyroidism

Skin
-frontal balding
-pilomatrixoma/ calcifying epithelioma

Cardiovascular system
-cardiac conduction defects
-systemic hypotension

Respiratory
-respiratory insufficiency largely due to respiratory muscle weakness

Alimentary canal
-feeding and swallowing difficulties
-gastrointestinal pseudobstruction
-general gut motility problems

Nervous system
-mental retardation and cognitive impairment
-sensorineural deafness

Immune system
-reduced levels immunoglobulins and some complement components

 

Sleeping problems and energy myotonic dystrophy

Many individuals with myotonic dystrophy run into problems with excessive sleeping (hypersomnia) or problems with energy levels as the disease causes individuals to lose focus and direction. At the 11th annual conference in Liverpool England they said that a new drug had helped some individuals. This drug is known as Modafinil or in the USA under the trade name Provigil.

The doctors at the conference stated that the drug had worked remarkable well for some patients and that it had let them lead a more normal life. Dr. Miller at the MD clinic in San Francisco had some familiarity with the drug and suggested a trial.

My wife has taken the drug only a few times in the last few weeks but it has made a world of difference. Her energy level has picked up. She previously was unable to do many tasks as she was tired. Now she can do many more tasks. She used to sleep 14-18 hours a day. Now she can function at more normal levels.

Another individual took the drug and it worked for a week but then the effects seemed to wear off and she slept as much as she did before.

Information from the Quest Magazine Vol 7 #5 (October 2000)

In Myotonic Dystrophy the part of the brain that  controls the level of arousal and alertness is often involved. People with myotonic dystrophy even after their respiratory problems have been brought under control with assisted ventilation may need additional help in the form of a stimulation medication.

David Rye a neurologist and sleep specialist at Emory university has used pemoline (Cylert) methylphenidate (Ritalin), and modafinil (Provigil) for this purpose when patients with myotonic dystrophy and daytime sleepiness come to him from the MDA clinic. He says that recent breakthroughs concerning proteins in narcolepsy (a brain disorder that causes people to fall asleep frequently during the day) may have application to the daytime sleepiness of myotonic dystrophy.

Rye uses a multiple sleep latency test in which the subject is asked to take 4-5 naps at two hour intervals as a “way of putting a number” on daytime somnolence. The test measures the kind of daytime sleep experienced (REM sleep is unusual in the normal napper) and the time it takes to fall asleep during the day.

From the same article in Quest

Myotonic dystrophy affects not only the muscles in breathing but also the cells in the brain that control how we breathe. During sleep many people with this disorder can fail to breathe normally because of this brain factor a condition that is known as central sleep apnea (because of the involvement of the central nervous system)

The usual treatment for sleep apnea whether its obstructive or central and for ineffective nighttime ventilation  is noninvasive positive pressure ventilation (NIPPV). This means using a small ventilator that pumps air into the lungs via a mask that fits over the nose or nose and mouth to assist in breathing

The type of NIPPV that is usual used in neuromuscular disease is bilevel positive airway pressure or BiPAP. Bilevel pressure as contrasted to continuous pressure (CPAP) allows lower pressure to exhale against and delivers a higher pressure on inhalation.

FROM MDA Site ask the experts: REPLY from MDA: David Rye, M.D., Ph.D., Emory  University  School of Medicine,Atlanta, GA 30322

Excessive daytime sleepiness is exceedingly common  in myotonic dystrophy (about 85 percent). Unfortunately, it has not been systematically studied and there is a lack of objective data on its prevalence, cause and treatment. Many patients with muscular dystrophies exhibit sleep apnea, which can fragment sleep, resulting in  numerous arousals and unrefreshing sleep with daytime sleepiness. It has been estimated that nearly 50 percent of patients with “neuromuscular” diseases have clinically significant sleep apnea. Therefore, it is wise to have a sleep study performed to rule out the presence of sleep apnea. This can even be a portable study at home for convenience. If sleepiness exists in the absence of sleep apnea or with treated sleep apnea, treatment with wake-promoting drugs like Provigil is certainly warranted. We have observed many favorable responses with Provigil in patients with  myotonic dystrophy and are advocates of its use.  Side effects are minimal compared to other classic psychostimulants such as methylphenidate (Ritalin)and dexamphetamine (dexedrine).

Articles to Review

Provigil Reduces Fatigue in MS patients
Provigil approved for Narcolepsy
Provigil and Sleep Forum

Studies

Provigil and narcolepsy
Provigil and Multiple sclerosi