Tag Archives: myotonic

Pneumonia Lung Problems

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LUNG PROBLEMS

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

Management of Myotonic dystrophy

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This information is from the 11th annual conference of the English Myotonic Dystrophy

“Myotonic Dystrophy Incurable but not Unmanageable”

The incidence of Myotonic Dystrophy is 1 in 8000. Most general practioners have about 2000 patients in their practice. So by simple mathematics only one in four general practioners will see a patient with DM. Most will not know much about it. So it is necessary to have specialized centers for treatment. (Webmaster note: By implication the congenital form is about 1 in 100,000 so that only 1 in 50 pediatricians will have a patient with CMyD in their practice)

Most other muscular dystrophies will only affect the muscles. DM is different in that other systems are affected as well. Another difference is that with most other genetic diseases you either have the gene and the disease or you don’t. DM is a variable genetic disease. It severity differs with the age of onset and the number of repeats. There is not a distinct expression of the disease based on an on or off view. Thus, many medical practioners will have a harder time understanding the disease. The other implication is that you can not generalize the condition of one patient with the disease to another, it is variable

Skeletal Muscle: The skeletal muscle is defined by Myotonia of muscular stiffness, in particular hand stiffness. Also certain other muscles are weak especially facial, scapula and humorous muscles are mostly affected. However, this stiffness is generally not he problems that patients report more, it is the weakness of the hand and other muscles that comes into play. This is more the day to day problems that weaker muscles may cause. Weakness of the grip seems to be the most problematic. A normal male should be able to squeeze about an equivalent of 50Kg. A patient with DM may only be able to squeeze the equivalent of 10-1Kg for example. Also weakness of the ankle muscles causes the characteristic gait of DM. Dr. Jones mentioned that a patient of his was unable to blow into a breathalyzer machine So Dr. Jones felt it was more the practical issues of weakness more than the myotonia that affect DM patients

Smooth Muscles: One of the primary effects of DM on smooth muscle is that swallowing and feeding are much more difficult. What is generally recommended is that food should be cut into small pieces and drink used to wash this down. Care must be taken to avoid aspiration pneumonia, that is food going down into the lungs and causing pneumonia. Dr, Jones mentioned a drug Cysotia?? (Margaret can we get clarification here) or surgery that might be needed to assist. Also a video Fluoroscopy will help diagnosis any feeding problems.

The smooth muscles also affects the bowel and notably irritable bowel syndrome is very common in patients with DM. This is failure of coordination of muscles. Constipation is also a complication because of muscle problems plus immobility of patients not moving. Surgery is not recommend and Dr. Jones has heard reports of patient deaths with surgery. The Uterus is also affected and problems in childbirth may result.

The heart is affected in other dystrophies but in DM it is not the heart muscle itself that is affected. Rather, it is problems with the electrical signals not working properly and the heart either working to fast or too slowly. Atrial fibrillation is when part of the heart is not working efficiently, pumping to fast and not coordinated) and this can cause dizzy spells and blackouts, can be treated. The heart can also pump too slow causing the same symptoms. Heart changes are slow to respond to changes in the body. Dr. Jones recommended an EKG every year to look for problems.

Eyes and Ears: Cataracts can be the first evidence of myotonic dystrophy disease. Generally, if cataracts are seen in patients under 50 DM should be considered. There is nothing special about the mature form of cataracts. However, in the early stages there is a characteristic pattern that can be seen that is unique to DM. A mild degree of deafness is due to DM but not serious.

Brain. On average IQ is a little lower. In the congenital form IQ is reduced and most children will have learning disabilities. The mental problems are pretty static with little change over time.

Excessive Daytime Sleeping: 75% of DM patients have excessive sleepiness. In a survey they conducted 120 responses were received and 40% of patients had a pathological sleeping problem. There is a new drug Modafinil (Brand name Provigil in USA) that might help. Make sure to take it in the morning!

Breathing: The lungs are affected as well as the heart. The anesthesiologist should be informed as well as the surgeon prior to any surgery. Certain precautions must be taken. DM suffers should wear a bracelet as well as cards in case of an accident. The group had a handout on anesthesia that was in some of there earlier newsletters.

Endocrine System: There is reduced fertility in patients with DM. There is also diabetes. Dr. Jones didn’t feel that DM diabetes falls into the classical sense of Diabetes. Feels that all patients with DM have problems with sugar levels. (My note: Might possibly have a different Mechanism of action?). Would be nice to get some more information on this.

Dr. Jones feels that the age of onset is a more potent predictor of outcome versus the number of repeats. There is the anticipation factor where in each generation the outcome becomes progressively worse.

Genetic counseling: Family needs to be screened especially women to prevent them from unknowingly having an infant with CMyD. When an individual is identified strong efforts should be considered to have other family members tested to avoid them having CMyD. For example Dr. Jones considered an example of a 28 year old male who was confirmed diagnosis with DM. He had 2 sisters one 25 and one 21. The 21 year old sister went on to have a child with CMyD because she was not informed or tested.

Link to Article by Dr. Carter on Management of Neuromuscular Diseases

Myotonic Dystrophy Booklet Vermont Genetics

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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

MDSG 11th annual conference England

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click here to view Liverpoolhotel click here to view JeninaLondon
May 20, 2000
We arrived in Liverpool late in the evening about 23:00 after long train trip from London. It was a 3 hour train trip from London complicated by a late arriving train. As soon as we arrived there was a quick phone call from Margaret Bower the chairman of the Myotonic Dystrophy Support Group. She welcomed us and made sure that we had arrived with no problems. We had a restful nights sleep despite our jet lag from the USA.

The next morning we arose bright and early and began our preparation for the day’s exciting events.  I had brought some poster boards from the USA. One was on the website that you are reading. A second was on the muscular dystrophy Association in the USA. The third was the new Support group in LA the Myotonic Awareness and Assistance Association. We ran a small fundraiser for the MyotoniAAAA.

We had breakfast and began to meet some of the wonderful members of the organization. Everyone was bright and cheerful and  we looked forward to a great meeting. If you wish to view a copy of the program click here.

The group has a lot of fundraisers available for sale. We bought a sweatshirt and several other shirts as well as pens and other items.  We even bought Bumper stickers so watch out for the Sticker Myotonic Dystrophy Support Group! I hope that we can post information shortly so that you can buy some of these great items and support this wonderful group.

For me it certainly was a highlight of the year. Since I heard about the conference in late 1999 or early 2000 I wondered what it would be like. I must say that all my expectations were met and exceeded and I certainly thought it was worth the time and money to attend. Here like nowhere else that I found was a critical mass of people who shared the same background that we had and also had the support and knowledge of the medical profession behind them.

Meeting the people was just great for us we met both parents of children with CMyD and  and also people with DM. This was just the nicest experience. We could talk about many things that were in common as well as just be with one another. It was a strong bonding experience for me.

At the conference they had “Creche” which for non English folks this is a nursery type of atmosphere where they had arranged for childcare for younger ones. They also had a strong program for the younger adults and this was “Football” Soccer as well as I think manicure treatment. So everyone got to participate.

It was nice to see the younger adults interact. I’m sure that it was just a real benefit to them to meet other people who were just like them. Its hard enough being a teenager so meeting others with the disease I think was immensely helpful for them.

We also brought some wine from California for the “Home produce” auction. I feel that the People in Britain though are more beer drinkers and should have brought some home brewed beer instead. There was also a raffle but I never did find out how you buy the raffle tickets.The conference was over so fast. It began we met people and then quickly we had to take the train back to London. It was a shame we could not stay longer…but then there is next year.

What it showed us was the power that a group can have. This power to organize and to share information and experiences can not be underestimated. If we all communicate and organize it will make the disease easier to manage. Eventually, in the future there will be more positive therapies, but now with communication and coordination we can make the disease more manageable. The other thing I wondered is why we are all alone in the USA. Why hasn’t the MDA association been more active in designing support groups? More questions than I have answers to…Anyway here is the day’s program. I tried to take as complete notes as possible!

Margaret opened the meeting at 10:15 and then introduced chairman for the day Elycia Ormandy. Elycia gave good comments and apologized the the “Silly Song” not being ready but it did arrive later to the tune of “Yellow Submarine”. I think was caught most of the humor even though we were not British.

Dr. David Brook keynote speaker expertise in Medical Genetics

We did a review of the genetics of the disease and I found out some new information too.  Attached to the DNA is a 3′ UTR (untranslated Region). There is DNA with the 3’UTR is translated into mRNA with the UTR attached. However, the mRNA does not translate the 3′ UTR into the protein so the protein is coded without the UTR region.

The main cause of the Myotonic dystrophy was shown in a slide that is difficult to reproduce here. Basically the slide showed a normal person’s cell and a cell with Myotonic dystrophy. The normal cell showed nothing wrong. The slide with myotonic Dystrophy who showed many red spots. These red spots indicated that the mRNA is actually trapped inside the nucleus of the cell. Because the mRNA is trapped inside the cell there is a shortage of the protein that is needed to have the body function normally.

Since the Chromosomes are paired the first part of the Chromosome makes the normal part of the protein. The chromosome that is damaged with the extra repeats can not make the protein so their is a deficiency of these proteins. This is what Dr. Brooks believes is the cause of Myotonic Dystrophy.

A college of his, Marion, in Nottingham is working on a theoretical gene therapy. The theory behind this gene therapy would be to produce a ribosome that would attack the accumulated mRNA in the nucleus and break in into parts that could escape the nucleus. Thus if the myotonic dystrophy is caused by a buildup of the mRNA in the nucleus this would be a potential treatment.

Dr. Brook then relayed some tests that had shown that 11 CTG repeats and the proteins are produced properly. But at 140 repeats no protein is produced. This again seems to indicated that the that the mRNA is trapped in the nucleus of the cell. He also showed a slide which had the green fluorescence  test a test that allows researchers to easily see when a cell has myotonic dystrophy.

A drosophilae (common house fly)  homologue has been identified for the myotonic dystrophy gene in humans. A new study in the Nature Genetics Journal has found a role for a piece of gene called six5 was first identified by Keith Jansen’s Group.

Studies with Mouse with Six5 if you inactivate both copies of gene Six5 in the mouse, the mouse will get cataracts. The implication of this study is that the DMPK (Muscular Dystrophy Protein Kinase)  gene with extra repeats inactivates parts of the gene code.

Questions form Audience:

There were several questions on the practical management of the disease that were deferred to the afternoon sessions.

Question: Does the mapping of the human genome help your research

Definite the mapping has helped us out. This basic research is very helpful in making sure that we have the proper information when we need it.

 

Dr. David Hilton-Jones

                        “Myotonic Dystrophy Incurable but not Unmanageable”

The incidence of Myotonic Dystrophy is 1 in 8000. Most general practioners have about 2000 patients in their practice. So by simple mathematics only one in four general practioners will see a patient with DM. Most will not know much about it. So it is necessary to have specialized centers for treatment. (Webmaster note: By implication the congenital form is about 1 in 100,000 so that only 1 in 50 pediatricians will have a patient with CMyD in their practice)

Most other muscular dystrophies will only affect the muscles. DM is different in that other systems are affected as well. Another difference is that with most other genetic diseases you either have the gene and the disease or you don’t.  DM is a variable genetic disease. It severity differs with the age of onset and the number of repeats.  There is not a distinct expression of the disease based on an on or off view. Thus, many medical practioners will have a harder time understanding the disease. The other implication is that you can not generalize the condition of one patient with the disease to another, it is variable

Skeletal Muscle: The skeletal muscle is defined by Myotonia of muscular stiffness, in particular hand stiffness. Also certain other muscles are weak especially facial, scapula and humorous muscles are mostly affected. However, this stiffness is generally not he problems that patients report more, it is the weakness of the hand and other muscles that comes into play. This is more the day to day problems that weaker muscles may cause. Weakness of the grip seems to be the most problematic. A normal male should be able to squeeze about an equivalent of 50Kg. A patient with DM may only be able to squeeze the equivalent of 10-1Kg for example. Also weakness of the ankle muscles causes the characteristic gait of DM.  Dr. Jones mentioned that a patient of his was unable to blow into a breathalyzer machine So Dr. Jones felt it was more the practical issues of weakness more than the myotonia that affect DM patients

Smooth Muscles: One of the primary effects of DM on smooth muscle is that swallowing and feeding are much more difficult. What is generally recommended is that food should be cut into small pieces and drink used to wash this down. Care must be taken to avoid aspiration pneumonia, that is food going down into the lungs and causing pneumonia. Dr, Jones mentioned a drug Cysotia??  (Margaret can we get clarification here)  or surgery that might be needed to assist. Also a video Fluoroscopy will help diagnosis any feeding problems.

The smooth muscles also affects the bowel and notably irritable bowel syndrome is very common in patients with DM. This is failure of coordination of muscles. Constipation is also a complication because of muscle problems plus immobility of patients not moving. Surgery is not recommend and Dr. Jones has heard reports of patient deaths with surgery. The Uterus is also affected and problems in childbirth may result.

The heart is affected in other dystrophies but in DM it is not the heart muscle itself that is affected. Rather, it is problems with the electrical signals not working properly and the heart either working to fast or too slowly. Atrial fibrillation is when part of the heart is not working efficiently, pumping to fast and not coordinated)  and this can cause dizzy spells and blackouts, can be treated. The heart can also pump too slow causing the same symptoms. Heart changes are slow to respond to changes in the body. Dr. Jones recommended an EKG every year to look for changes.

Eyes and Ears: Cataracts can be the first evidence of disease. Generally, if cataracts are seen in patients under 50 DM should be considered. There is nothing special about the mature form of cataracts. However, in the early stages there is a characteristic pattern that can be seen that is unique to DM. A mild degree of deafness is due to DM but not serious.

Brain. On average IQ is a little lower. In the congenital form IQ is reduced and most children will have learning disabilities. The mental problems are pretty static with little change over time.

Excessive Daytime Sleeping: 75% of DM patients have excessive sleepiness. In a survey they conducted 120 responses were received and 40% of patients had a pathological sleeping problem. There is a new drug Modafinil, trade name Provigil  that might help. (Webmaster Note: This drug worked very well for my wife who is taking 100mg per day. See information on Sleeping and Energy)

Breathing: The lungs are affected as well as the heart. The anesthesiologist should be informed as well as the surgeon prior to any surgery. Certain precautions must be taken. DM suffers should wear a bracelet as well as cards in case of an accident. The group had a handout on anesthesia that was in some of there earlier newsletters.

Endocrine System: There is reduced fertility in patients with DM. There is also diabetes. Dr. Jones didn’t feel that DM diabetes falls into the classical sense of Diabetes. Feels that all patients with DM have problems with sugar levels.  (My note: Might possibly have a different Mechanism of action?).  Would be nice to get some more information on this.

Dr. Jones feels that the age of onset is a more potent predictor of outcome versus the number of repeats. There is the anticipation factor where in each generation the outcome becomes progressively worse.

Genetic counseling: Family needs to be screened especially women to prevent them from unknowingly having an infant with CMyD. When an individual is identified strong efforts should be considered to have other family members tested to avoid them having CMyD. For example Dr. Jones considered an example of a 28 year old male who was confirmed diagnosis with DM. He had 2 sisters one 25 and one 21. The 21 year old sister went on to have a child with CMyD because she was not informed or tested.

Dr. Alex Magee

From Belfast Northern Ireland. Met Dr. Peter Harper in England and he helped convince her to study DM. This is an autosomal dominant pattern meaning that 50% of the offspring would be affected if one parent had DM. If two parents had DM then the chance of offspring having this would be 75% with possibly one severely affected.

Northern Ireland Demographics:
67 Families have been identified with DM. 200 individuals have the disease. 16 have the congenital form. One third of the patients in Ireland find out they have the disease through an affected child.

Anticipation means:  “progressively earlier appearance of a disease in successive generations with generally increasing severity” We are not sure why only the mother causes the congenital form of the disease. DM tends to disappear in families as the disease causes fertility problems and CMyD does not allow children to reproduce.

Affects on the Family During discovery:

                    Relief
                    Hurt
                    Anger
                  

Northern Ireland Muscle Clinic. The Patients see the following specialists:

Adult Neurologist
Pediatric Neurologist
Orthopedic Surgeon
Clinical genetics
Physiotherapist
Occupational Therapist
Speech Therapist
Dietician
Podiatrist
Support group Officer
Social Worker

Planning a Family?

Genetics counselor can review with Patient and Partner some issues. Here are a few of the issues that are covered.

For a Male with DM
size of the Expansion
chance of infertility
Anticipation
Practically no chance of child with CMyD
Prenatal Diagnosis
preimplant diagnosis

For a Female with DM
size of the Expansion
chance of infertility
Anticipation
Chance of child with CMyD (larger the size more chance of CMyD)
Childhood onset
Prenatal Diagnosis
preimplant diagnosis

Amniocentesis: Can be done 13-14 weeks into pregnancy. Retrieve 5-10ml of fluid. Cells from the fetus skin get into the fluid. The DNA from these cells can then check for DM Diagnosis. The Ireland clinic cites a 1% chance of miscarriage with this procedure.

Dr. McGee cited case where her husband diagnosed a case of DM. HE was a first aid officer in a motorcycle race. There was a crash and he went to render aid. He asked the driver why he didn’t break. The man replied that he was having stiffness in his hand and if he braked he would not be able to speed up again so he took the risk of going into the turn fast. Her husband had him squeeze his hand and made a tentative diagnosis on the spot.

At lunch many awards were made. Margaret and many others received gifts

There is also a book that will be available called “How to adapt your house”.  This book with be very helpful for patients with DM. It may sell for L10 with L6.5 for shipping and handling. ( Ask Margaret about the details??)

 

Workshop on Congenital Myotonic Dystrophy in the PM

Paula Nicolaides
Royal Liverpool Children’s National Health Service Trust
Liverpool, England

Stated that the incidence of CMyD is one in 3500 (NOTE This seems low. I check with Dr. Brooks later and he confirmed that standard DM incident is 1 in 5000 to one in 8000, The congenital form is more like 1 in 100,000) She talked about Talipes Clubfoot and the pronunciation is “Tal-ah Peas”. Babies with this disease may have this. They also present with a “frog-like posture” They tend to have an expressionless face and low tone, and present as a floppy baby. The CMyD type has a type of maternal factor that has been implicated. With brain imaging MRI they show ventricular dilation. Other Factors:

 

disturbance of Speech and Swallowing

Smooth muscle constipation or abdominal pain

behavioral problems ADHD

Intellectual and psychological difficulties

cardiac Involvement

Gill Holmes
Senior Physiotherapist
Alder Hey Neuromuscular Clinic
Liverpool, England

Generally kids will be behind in most or all of their milestones.
Role that the physiotherapist plays:

Initial Assessment
Ongoing assessment
Advice on
    Stretching
    Seating
    braces
Also consults with local Physiotherapist

Seating

-May need special seat if there are spinal Problems
-need supported seating for feeding might be special seat
-Liverpool provides this equipment

Standing

-May need a prone stander
-May need a flexistand
-Then they may need orthotics
must be very patient in working with these kids
-They may have flat feet and need Orthothics
-AFO’s or night splints

Speech and Swallowing Problems

Presenting Problems

Poor Intake
Poor Weight Gain
Spends a long time eating small amounts
Coughing and choking episodes
Uncoordinated and Messy eater
Recurrent chest infections
Food Refusals

Assessment

How child communicates
Appropriate positioning and seating
Coordination of sucking, swallowing, and breathing
Control of tongue, jaw and palate movements
How child expresses hunger and food preferences

Implementation

-Use mealtimes as an opportunity for communication
-encourage child to choose
-Use pointing signs or symbols if appropriate
-Make sure child is well supported with head in midline and chin tucked in
-Use special seating if necessary

Sucking

-Should be efficient with small rhythmic movements
-jaw stability and drawing in cheeks are important
-help from an adult may be required
-prolonged sucking can prevent child from developing more mature eating and drinking skills
-ability to swallow safely is contingent upon no unexplained respiratory problems or coughing during feedings
-video fluoroscopy can help determine the nature of any problems

Oral Motor Skills

-These are important for eating drinking speech and saliva control

Jaw Control

-Stable base from which tongue can move
-helps eating and drinking to be sufficient
-can be provided by an adult if the child will tolerate this
-problems with jaw can lead to poor sucking drooling and loss of food from mouth
-poor side to side control causes basis of chewing problems
-recommend early introduction of cup feeding
-drinking can help with more varied and complex motor skills
-helps child practice controlling liquid in mouth

QUESTIONS FROM AUDIENCE:

Constipation how to handle this??
-High Fiber diet
– One parent wanted to avoid relaxants
-The panel suggested stool softeners which makes the stool come out easier. It draws water into the stool. A product called laculose an undigested sugar was suggested to try.
– One parent said that everything was okay in a familiar environment but in unfamiliar environments is where the problems occurred.
-Stool softener again recommended
-The panel recognized that this is a social problem
-Another parent was concerned with a “Leakage” Problems when there was fecal incontinence. The panel suggested that the rectum might be full and leakage was occurring around it. They again recommended a stool softener.

Question: Is drug therapy appropriate for ADHD

_Panel yes under some circumstances see your doctor
-IT is an appetite suppressant so be aware of diet
-Watch out for anorexia nervosa

Question: Child has problem in swallowing liquids. Could only drink a cup a day and liquid comes out of nose.

-Add a thickening agent to the fluid is drinking is difficult
-Look at more wet food, and thickening agents-

 

Question: Does exercise help the condition?

Answer: One study showed that moderate exercise helped. Also a person with DM answered from the audience in his personal opinion it did not help once the muscle is gone it is gone

 

Sir John Walsh
Alder Hey Children’s Hospital

Talipes
    These type of problems are very complex to solve   
    Recommends early stretching exercises
    Can use plaster techniques
    Can not correct more than flex allows with plaster
    Better to cast a little change at a time if large changes required
    Skin Problems can occurring with casting
    All surgical remedies causes scar tissue
   

After this session we had to leave, it was a great day and ended much too soon. We have to thank the Myotonic Dystrophy Support Group in England for all their great hospitality and hope to see them all again soon. This is an annual conference and we do hope that you may be able to attend in future years. Information about the conference will be posted on the site as soon as it is available.

Richard and Jenina Weston
Crystal Lake, IL USA

 

Experience of social support in rehabilition

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Nätterlund, Birgitta OT; Ahlström, Gerd RN PhD

Doctoral Student, Lecturer, Department of Caring Sciences, University of Örebro and Department of Public Health and Caring Sciences, Caring Sciences Unit, University of Uppsala, Uppsala, Sweden (Nätterlund)
Associate Professor, Department of Medicine and Nursing Science, University of Linköping, Senior Lecturer, Department of Caring Sciences, University of Örebro, Sweden (Ahlström)
Accepted for publication 22 March 1999
Correspondence: Birgitta Nätterlund, Department of Caring Sciences, University of Örebro, S-701 82 Örebro, Sweden.
E-mail: birgitta.natterlund@ivo.oru.se

Abstract

The progressive muscular weakness brought on by muscular dystrophy causes the sufferer many problems in everyday life. Earlier studies in Sweden have shown that adults with hereditary muscular dystrophy often have difficulty in gaining access to rehabilitation. For this reason a special rehabilitation programme was drawn up and carried out, extending over a period of 18 months. The purpose of the study is to describe the participants’ experience of social support in connection with the programme. Thirty-seven participants (21 women and 16 men) were interviewed. The analytical method was phenomenological, incorporating validation by independent judges. Nine overall themes emerged from the interviews: psychosocial support, meeting other people with muscular dystrophy, knowledge and learning, adjustment in daily life, coping with illness-related problems, adjustment at work, management of physical disability, medical examination and treatment, and involvement of relatives. The results indicate that the participants encountered staff with a sense of commitment and felt themselves to be ‘seen and confirmed’. From the discussions and the contact with others in the same situation there arises a sense of affinity and a better understanding of one’s own situation. There was appreciation of the education about the disease, its hereditary aspect, technical aids, grants and physical training. Hardly any of the participants spoke of knowing such things before. In conclusion there was approval of the received support, and recognition that persons with muscular dystrophy should be given access to recurrent rehabilitation.

INTRODUCTION

Rehabilitation staff need knowledge of how different interventions affect individual well-being (McColl & Skinner 1995) so as to be able to draw up clear strategies for supporting patients and their relatives in everyday life (Theobald 1997). High-quality rehabilitation presupposes close co-operation between health-care professionals and the patients and their families (Bartalos 1991). Several studies indicate the importance of social support and purposeful coping for reducing distress in the case of chronic disease (Thoits 1986, Bach 1995, McColl et al. 1995, Roberts et al. 1995, Anderson et al. 1996). Social support can be divided into received support, available support and administered support. Received support is that which the patients feel that they have in fact received. Available support is that which they feel is there if they need it. Administered support is that which the staff have indeed given, which does not necessarily correspond with what the patients feel they have received (Sarason et al. 1990).

In recent years increasing attention has been paid in the literature to intervention for the purpose of improving the patient’s ability to cope to the extent that there can be ‘successful problem-solving’ or acceptance of the situation (Bartalos 1991). Coping is the person’s own effort to handle stress, and it is usually referred to as emotion-focused or problem-focused. The former involves what is done to handle the emotions bound up with stressful problems, and the latter involves what is done to handle the source of stress (Lazarus & Folkman 1984). The two types of coping are integrated in practice and are often impossible to distinguish separately ( Lazarus 1993, Hansson & Ahlström 1998). Thoits (1986) has developed a model for social support (House 1981) related to coping (Lazarus & Folkman 1984): 1) Instrumental support denotes what is done to enhance the person’s capacity for problem-focused coping; 2) Informative support denotes advice, guidance and other such means of backing up both problem-focused and emotion-focused coping; 3) Emotional support denotes what is done to facilitate the person’s capacity for emotion-focused coping (House 1981, House & Kahn 1985).

Earlier studies have shown that adults with muscular dystrophy (MD) have often had difficulty in gaining access to rehabilitation (Ahlström 1994). MD is a term for several chronic, hereditary and progressive diseases where there is increasing degeneration of muscle cells. Different groups of muscles are involved in different types of MD. At present there is no cure (Bartalos 1991), but there are great hopes that gene therapy will eventually provide one (Gardner-Medwin & Sharples 1989, Kunkel 1989, Kuhn 1990). The increasing muscular weakness presents the person with a great number of problems in everyday life (Walton & Gardner-Medwin 1988, Edwards 1989, Ahlström & Gunnarsson 1996). Rehabilitation is expected to enhance the person’s quality of life through the effects of greater muscular strength and a greater range of mobility on the one hand, and through the learning of new ways of performing activities of daily life (with or without technical aids) on the other (Bartalos 1991). Apart from research within the domain of basic medical research, chiefly concerning pathophysiology and muscular physiology, no intervention studies have been published with reference to adults with MD.

The starting point for this study was a specific rehabilitation programme for adults with MD. The programme was based on the results of earlier research by Ahlström and collaborators (Ahlström 1994). These results had indicated that adults with MD encounter many illness-related problems in everyday life which they are unable to handle on their own. Emotion-focused coping in the form of minimization, anxious preoccupation and helplessness/hopelessness is common and is associated with low quality of life (Ahlström 1994, Ahlström & Sjödén 1996). There are different definitions of quality of life in the literature, depending on the theoretical perspective. There is a consensus, however, that quality of life is a multidimensional concept, representing a subjective dimension of experience, and changes over time (Ahlström 1994). In this study it is taken to be subjectively experienced well-being. The purpose of the study is to give an account of how persons with muscular dystrophy experienced the received support in a rehabilitation programme designed for them.

METHOD

Subjects
Fifty-two persons with MD from the county of Örebro, Sweden, who had been identified in an earlier population study (Ahlström et al. 1993), were invited to participate in the study. Thirty-eight of them accepted the invitation. One of the 38 was excluded because he was unable to attend all the rehabilitation sessions. Thus the group comprised 37 persons, covering the following diagnoses: 1) general MD: myotonic dystrophy 16; 2) distal MD: hereditary distal myopathy 8; 3) proximal MD: facioscapulohumeral MD 4, Becker MD 3, limb-girdle MD 3, Emery-Dreifuss MD 1, and proximal MD without a definitive diagnosis 2. Duration of the disease was within the range 6-45 years, with a mean of 23.7 years. There were 21 women (57%) and 16 men (43%), and the mean age was 50 years (range 23-69). Seventeen (46%) were in gainful employment, three of them full-time. Of the other 20, 12 were on early retirement and eight on retirement pension. Five (14%) were using a ventilator at night, and three of these had it tested in the course of the rehabilitation programme. Eight (22%) were dependent on a wheelchair.

Rehabilitation programme
The overall goal of the rehabilitation programme was the enhancement of the quality of life of those taking part. The following sub-goals were specified:

* plan and draw up individual rehabilitation programmes in consultation with participants and relatives;
* discover medical care requirements and give appropriate treatment;
* optimize participants’ capacity for function and activity;
* give participants and relatives affirmation of their own ability to solve problems of everyday life;
* when individual need and capacity do not correspond, show alternative ways of solving problems in both thought and action;
* provide information and training concerning the disease, technical aids, ergonomics, social service and social insurance;
* offer adaptation of the working and home environments to meet the participants’ particular needs;
* enable participants to exchange experiences with other persons with MD;
* allow room for conversations related to the participants’ own situations and those of their relatives;
* offer individualized psychosocial support where needed; and
* support the involvement of local professionals in the further follow-up of the participants.

The intervention was carried out by a multiprofessional team comprising a nurse, a neurologist, an occupational therapist, a physiotherapist and a medical social worker, together with, as consultants, a pulmonary physician, a cardiologist, a dietician, a speech therapist and an orthopaedic shoemaker/technician. The participants were divided into six groups of 5-8 in accordance with type of MD, degree of disability and age. The intention was that the groups should be as homogeneous as possible. The programme involved four sessions between the spring of 1995 and the autumn of 1996, and involved both individual intervention (75%) and group activities with participants and relatives (25%).

Session 1. One day. Contact day. After an introduction within a group each participant, together with a relative if there was one, met the team for individual examination. Individual rehabilitation plans were drawn up. Visits to home and work-place were planned.

Session 2. Four days (2 weeks later). Programme days. Individual measures (carried out by all the members of the team) in accordance with the aforesaid rehabilitation plans, involving, for example, adaptation of home, trying out of technical aids, examination, information concerning self-care programmes and (if required) contact with the orthopaedic shoemaker. Group activities led by dietician, social worker, speech therapist, physician, physiotherapist (e.g. discussion, education, water gymnastics), and evening activity arranged by the association for the disabled.

Session 3. Two-three days (6 months later). Follow-up programme. Completion of earlier individual measures in accordance with the rehabilitation plans, also group activities (e.g. discussion led by social worker or leisure activities suited to the needs of the disabled). The number of days was decided on the basis of the size of the groups.

Session 4. Two days (18 months later). Concluding measures. Individual measures, individualized discussion for the purpose of evaluation (with reference to the particular rehabilitation plan), and group discussion. Planning of how further rehabilitation is to be organised.

Interviews

The 37 participants were interviewed for the purpose of obtaining a deeper understanding of how persons with MD experience received support in the course of rehabilitation. The interviews were conducted at the hospital at the conclusion of the rehabilitation programme. It was the first time the interviewer (BN) had been in contact with the persons to be interviewed. The interviews were 45-90 minutes long. They were taped and then transcribed verbatim. An interview guide had been drawn up on the basis of the above-mentioned 11 sub-goals (Ahlström & Gunnarsson 1997) and a theoretical model for social support (House 1981). The interviewer always began by asking the participant to describe what he or she had got out of the rehabilitation. The interview guide covered three areas: 1) instrumental support (involving questions like ‘Will you describe any problem that you have had help in solving?’); 2) informative support (with questions like ‘Will you describe your experiences about the teaching?’); and 3) emotional support (with questions like ‘Will you describe how you felt about the discussion of questions to do with your own everyday life or that of your relatives?’). In each of the three areas follow-up questions were asked, to obtain further clarification and a fuller account.

Analytical procedure
The analytical procedure was phenomenological in nature and comprised five steps, inspired of Giorgi (1996): reading of interviews, division into meaning units, transformation, synthesis and general structure.

Reading of interviews
For the purpose of obtaining an overall picture, the verbatim transcriptions of the 37 interviews were read. Then each one was analysed on its own.

Transformation
Each meaning unit was systematically transformed in two steps (first and second transformation), each raising the level of abstraction. In this, ‘bracketing’ was employed, which is to say that the researchers previous knowledge and understanding was excluded. The meaning units were set out as scrupulously as possible and with no intrusion of interpretation.

Validation procedure A
The purpose of the validation was to guarantee that the interviewer had been faithful to the interview transcription in performing the analysis. A nurse (Marita Widar) with experience both of rehabilitation (of both children and adults) and of qualitative interview analysis (Widar & Ahlström 1998), acted as independent judge. Before doing the validation she read literature on the project itself (Ahlström & Gunnarsson 1997), on social support (Thoits 1986, Sarason et al. 1990) and on phenomenological method (Giorgi 1996).

Reading of interviews
The independent judge (MW) began by reading all the interview transcriptions (Figure 1), in order to obtain an overall picture.

Testing of method
The method of validation was tested by the independent judge’s transforming 13 meaning units chosen from the 37 interviews. The sample was taken by the interviewer: it comprised the first meaning units in every third interview. The judge’s transformations of the 13 meaning units were compared with those of the interviewer (BN). The purpose of this testing of method was to obtain a common basis for transformation. The differences which arose were discussed, then a final form was agreed on.

Transformation of text
The independent judge received all the meaning units from the 37 interviews and did a transformation of them ‘blind’, whilst the interviewer performed a further review of transformations 1 and 2 on the basis of the criteria deriving from the testing of method (Figure 1).

Validation and final joint transformation
All the transformed meaning units from the 37 interviews were compared by the interviewer (BN) and the independent judge (MW) (Figure 1). If there was any difference the original text was read once again and discussed, then the transformation was altered so as to make it as faithful as possible. This testing of credibility was carried out in accordance with the concept of correspondence, which is to say that the ‘truth content’ of the transformations was determined by their agreement with what the persons interviewed had expressly said (Kvale 1989).

Synthesis and validation procedure B
The authors (BN, GA) read through all the meaning units and the second transformation. For every person interviewed (n = 37), each author (BN, GA) then formulated, independently of the other, a synthesis, based on the validated transformations for the purpose of obtaining a phenomenological description of the participants’ experiences of received support. The authors’ syntheses were compared, and in the case of difference there was discussion in order to make the syntheses as true to the second transformation as possible, whereupon the final syntheses were formulated (Figure 1). After the conclusion of the validation of the 37 syntheses a general structure (Giorgi 1996) was drawn up (BN), covering the following nine themes: (1) psychosocial support; (2) meeting other people with MD; (3) knowledge and learning; (4) adjustment in daily life; (5) coping with illness-related problems; (6) adjustment at work; (7) management of physical disability; (8) medical examination and treatment; and (9) involvement of relatives.

The study has been examined and approved by the research ethics committee at Örebro Regional Hospital, Sweden.

RESULTS
Psychosocial support
Most of the participants feel that the staff had a sense of commitment and were ready to take the time to listen to what they had to say. The participants had trust in the staff, and found them to have knowledge of muscular dystrophies, a knowledge they passed on. It was good not having to explain things, the staff understood and were sensitive to the participants’ wishes. There was also appreciation of the discussions with the staff, where the participants could speak about their situation in peace and quiet. Several participants indicated that they got more help and support than they had expected, and many refered to there being a sense of security in knowing that you can ring up one of the team if you have a problem:

Yes, I think it’s a pity it’s over. I think it’s good to have this contact. You can take anything up, you can hear calming words if you’re worried about something, worried about what’s going to happen to you, which is the awful part.

Meeting other people with MD
Several of the participants had not previously met anyone else with muscular dystrophy. Thirty participants expressed the opinion that it had been valuable meeting others with the same illness (‘positive’, ‘awfully important’, ‘useful’, ‘the most important thing’, ‘interesting’, ‘means a lot’). It was good to be in a group and feel a sense of community. They have found new friends, have got to know one another’s difficulties and have given one another tips and advice. It has been good, they say, to become aware that they are not alone in their particular affliction: others, they find, are even worse off than themselves. Only a couple of the participants describe themselves as feeling no sense of community with the others:

You’ve seen what it’s like for others, and in a way that’s just about the best part, there’s a lot that’s good, of course, but just about the best thing is getting the chance to meet other people in the same boat.

Knowledge and learning
The participants described themselves as having received a valuable education concerning the disease, its hereditary aspect, technical aids, grants and physical training. Only a few had previous knowledge but even these few appreciated receiving new and up-to-date information about the disease and current research. The participants said that they are now aware of the importance of keeping to a proper diet and of keeping mobile. A few felt that they were given too much information on the same occasion, it was too intense. The participants felt that they, for their part, had given the staff knowledge and experience of what it is like living with muscular dystrophy:

And all are from different fields. The occupational therapist’s got this one, the social worker’s got that one, the doctor’s got another one, but at the same we’re all together, so there’s a big selection to choose from. Yes, I think it’s been great.

Adjustment in daily life
The participants felt that they had received support directed towards making things easier in their daily lives. This was in the form of adaptation of the home, technical aids, practical advice on working posture and little tricks for being able to do more. More than two-thirds of the participants spoke of having received technical aids which they ‘can’t live without’.

Some would like more help in adapting their home since they still have problems which it is difficult for them to solve on their own. A few are still healthy enough not to need technical aids or changes in their home. Nevertheless they appreciated being informed about the things which are available and to which they can have recourse when they become worse. Several said they want to try first without technical aids and only use them if they find they cannot do without them. They had been afraid of starting to use technical aids, especially a wheelchair, but now realized that such aids give them greater freedom of movement. Several appreciated having received splints and shoe inserts which make it easier for them to walk:

What was very good was that they showed, very thoroughly, what technical aids there are but didn’t try to push me into getting any of them, and that’s important too.

Coping with illness-related problems
The participants regard the rehabilitation as offering support both to themselves and to their relatives with regard to handling the difficulties of everyday life. Several spoke of always trying to find an alternative strategy if the first one failed. Approximately a third described the illness as having crept up on them, and spoke of having had it so long that they had got used to it and therefore gave no thought to how they handled the problems that come up. The participants described that they try to cope on their own to the best of their ability before asking for help. Slightly more than a third of them found it difficult to accept help, especially from someone they do not know, and hesitated to ask even relatives for help, wanting to be like everyone else and not be seen as moaners. Others felt that they had no one they could ask for help, or they said that no one offers to help. It is more difficult to ask for help if the disability is not visible:

You’ve got to try to solve problems all the time when you’ve got a disability like this. I mean, you’ve got to do the best you can for yourself.

Adjustment at work
Of the 17 participants gainfully employed, almost all felt that they did not have the strength and energy to work full-time, it being both physically and mentally strenuous to go to work and then take care of the family. At the same time they regarded it as a good thing to be able to get out of the home and meet fellow-workers and move about. Some of them mentioned having received valuable help from the team with regard to such improvements at work as adaptation of tasks, ergonomically correct posture and reduced hours. Only a few felt that they got help and support from their fellow-workers, and the majority found it difficult to ask for help when they cannot cope with a task:

It’s not that I don’t want to work, but I think it’s unfair that the one I work with gets to take over more and more because I can’t do it.

Management of physical disability
Rather more than half of the participants related that they have received support for further training in the form of tips, advice and training programmes. They dared to move more after having learnt of the importance of training for maintenance of function and for prevention of unnecessary deterioration in the form of atrophy due to inactivity. Almost half experienced that they had acquired a greater sense of motivation regarding training. They intend to go on training when they are back home, because it makes them feel good and they think it important to do what you have the energy for. Previously several had been advised not to train. The participants described themselves as having been enthusiastic in the beginning but as being remiss and forgetting to train, or as finding the training boring. They put off training but have a bad conscience about it. Several are too tired to train when they get home from work. Aches and pains are another obstacle, and some persons shy away from training because their balance is poor and they are afraid of falling:

Yes, I suppose I’ve been a bit lax about it, but now I’ve found out it’s really produced results, so now I’d really better try to get down to it.

Medical examination and treatment
The participants thought it very good that they were examined and were given referrals for such further examinations as spirometry and eye check-up, and for treatment, first and foremost ventilator treatment. They had received help with their breathing problems, and a couple of them had had the relief of discovering that they have good breathing values and are not as ill as they had thought. Some have difficulty regarding nasal and indistinct speech, and these persons mention having received advice about how to improve their manner of speaking:

Well, now I’m sort of clear about things. I’ve had tests taken and so have the kids, so now I know what’s what, know that they’re going to be healthy, which is a big relief.

Involvement of relatives
Most of the participants felt that the involvement of relatives was valuable and instructive, both for themselves and for the relatives. They felt that their relatives understood them better now, and that it was good for their relatives to see that there were others with the same illness. Eleven participants who did not have a relative taking part said either that it was unimportant because they can cope on their own anyway, or that they had no relative who was able to take part. Several found it difficult to talk to their children about their illness, not wanting to worry them:

Well, my husband thought it was good to get to know a bit about the muscles, what their structure is and which ones are sick, what it is about them that’s sick. So he was ever so interested.

DISCUSSION
The persons interviewed described themselves as having been ‘seen and confirmed’ by the rehabilitation team. The staff have both given them greater knowledge and shown them respect for their competence regarding living with muscular dystrophy. Education is felt to be valuable, in the first place that concerning the muscular dystrophy and its hereditary aspect. There is anxiety lest one’s children should be afflicted with the disease. The persons interviewed felt that learning about disease and heredity had been a good thing for their relatives too. Emotional support for the relative through, for instance, showing that one understands (Theobald 1997) is a prerequisite for his or her in turn being able to support the person afflicted with MD.The results confirm the value of rehabilitation in small groups with persons who have the same disease and can provide one another with motivation and emotional support (Anderson et al. 1996). The discussions and the opportunity to meet others in the same sort of situation create a sense of community and help them to understand their own situation better. For the first time participants feel there are others with lives much like their own. They have been able to compare themselves with others on an equal basis, not feeling outside or different. Studies have indicated that both formal groups (i.e. ones led by staff) and informal ones (i.e. self-help groups) are valuable for persons with a physical disease (Hildingh et al. 1995, McColl 1995) during and also after rehabilitation. It is important that persons who have an incurable progressive disease should have the opportunity to examine and work on their feelings and to verbalize their apprehension and anxiety, this in relation to the past, present and future. By talking about what is going to happen, the patient can make preparations in the form of positive coping strategies (Edwards 1989). The support and education have given the participants greater motivation and ability when it comes to meeting the demands with which the illness confronts them.It emerges from the interviews that the participants had a favourable impression of the received support. This can be traced to a humanistic approach (Lazarus & Folkman 1984) adopted by all members of the rehabilitation team, who strove for patient participation through involvement, sharing and collaboration. In the literature there is no clear consensus regarding what the concept of participation entails (Kendell 1993). Brownlea (1987) describes participation as ‘getting involved or being allowed to become involved in the decision making process or delivery of a service or even simply to become one of a number of people consulted on an issue or matter’.Since the study was based on the goals of the rehabilitation programme and on Thoits’s (1986) theoretical model of social support in relation to coping, the purpose and structure of the question areas and of the follow-up questions were clear. At the same time the interview was to some extent controlled, restricting the freedom of narration of the person being interviewed. In this study the steering of the questioning has been judged a merit, because the interviews are an evaluation of a specifically designed rehabilitation programme. After a phase of analysis characterized by ‘bracketing’ there emerged nine themes. Except for ‘coping with illness-related problems’, the eight themes emerged from the phenomenological analysis and all eight were seen as referring to both instrumental, informative and emotional support (House 1981, House & Kahn 1985). A consequence of social support will be the enhancement of the ability to cope with illness-related problems (Thoits 1986). From the answers on coping, however, it is impossible to distinguish between problem-focused coping and emotion-focused coping. In the literature it is said that these types of coping are to be regarded as theoretical concepts which for the most part are integrated in practice ( Lazarus 1993, Hansson & Ahlström 1998).The participants felt that they had now ‘come to the attention of the health-care system’ and that they now knew who to get in touch with for help or advice. It is ethically important that patients with grave chronic diseases are not abandoned after the conclusion of a project. In the planning therefore of a project extending over a limited period, follow-up must not be neglected. It is important that a social network be built up in the patient’s local environment, so that he or she can get to know the appropriate staff in order to be able easily to get in touch with them if a problem arises (Roberts et al. 1995). The participants in this project were followed-up through a new department in a habilitation centre for adults. The goal and ideas from this project were implemented by one of the authors (GA).In phenomenological method it is important to be faithful to the text of the interview and important that validation be guaranteed in that transformations and syntheses are formulated in the most scrupulous manner (Giorgi 1996). In this study there was validation also by independent judges. It emerged that the transformations of the interviewer (an occupational therapist) and the first judge (a nurse), respectively, had the same content although differing in choice of expression. For the interviewer the expression ‘make things easier in everyday life’ referred to measures large and small, whilst for the judge it referred only to large measures. In the testing of method before the validation procedure it was decided to let the expression refer to measures both large and small. The fact that the interviewer and the judge had different experience and different occupational background was regarded as an advantage for the credibility of the results. Whether validation of phenomenological research is warranted or not is the subject of debate in the literature and there is a lack of consensus (Beck 1994, Giorgi 1996, 1997). In this study it has been possible to use the five-step method (Giorgi 1996) in analysing the text of the interviews with 37 persons. Every effort was made to be faithful to the original text, at the same as every effort was made to avoid all presuppositions regarding its interpretation. A merit of this study is that the interviewer took no part in either the planning or the implementation of the rehabilitation, for which reason the participants did not find themselves in any dependent relation to her. The interviewer had not met any of the persons before interviewing them, this to avoid the risk of ‘socially desirable’ answers. Sometimes it was difficult to interview because there were some with dysarthria (Holmberg et al. 1996). In such cases supplementary questions were asked in order to obtain complete audible accounts on the tapes.

To both work and look after a family is often too much for the person with MD (Edwards 1989). The person thinks it important to be able to get out and meet others at work, and to maintain his or her role in society. By means of recurrent periods of rehabilitation the person can be given the possibility of carrying on working, even if on a reduced scale, and meets others in the same sort of situation. Muscular weakness is a common cause of limited opportunity to work, and it can also be the cause of limited opportunity to choose the type of work. Many with chronic disease are put on early retirement (Boutaugh & Brady 1996). Transport to and from work constitutes another restriction, because the MD patients cannot get on or off a bus on their own, or into or out of a car (Nätterlund & Ahlström 1999), therefore they need a specially adapted car. They described that they receive insufficient support from the employer, which is in line with previous findings (Sarason & Sarason 1994). Several of the participants felt that discussing things with the rehabilitation staff had given them the courage to speak to their fellow-workers about their illness. Training designed to maintain posture and mobility and to counteract contractures is of particular importance for persons with MD (Edwards 1989, Viswanathan 1991).One limitation of this study is that the results may be influenced by the fact that the persons had taken part in earlier research (Ahlström 1994) and can be expected to have a generally favourable attitude because of the attention paid to them before. Some of the staff had themselves chosen to take part, which means that they most likely had a particular commitment. Therefore there is need of further application of the programme to determine whether equally favourable results are obtained when there are other staff and other persons with MD or other chronic disease.The rehabilitation goals were formulated on the basis of earlier descriptive research concerning this patient group (Ahlström 1994). It emerges from the results that the goals were individualized in accordance with particular need. The study indicates the importance of a multiprofessional team to assist persons with MD to cope with the complexities of everyday life. In spite of the fact that MD is a progressive disease, some of the participants feel both a physical and mental improvement. They have become happier, feel they have greater mobility and are stronger, have more energy and have acquired greater motivation, probably as a result of the social support from the team. Recurrent rehabilitation should be made available to these patients. There is also a need for longitudinal research on the value of rehabilitation from the patients’ perspective, in particular qualitative studies.

Acknowledgements
This research was supported by the Vårdal Foundation and the Department of Caring Sciences, University of Örebro. The authors wish to thank Mrs Marita Widar for her validation work.

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Keywords: muscular dystrophy; social support; rehabilitation programme; evaluation; qualitative method; phenomenology; quality of life; chronic disease