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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:
Northern Ireland Muscle Clinic. The Patients see the following specialists:
Support group Officer
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
Practically no chance of child with CMyD
For a Female with DM
size of the Expansion
chance of infertility
Chance of child with CMyD (larger the size more chance of CMyD)
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
Royal Liverpool Children’s National Health Service Trust
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
Alder Hey Neuromuscular Clinic
Generally kids will be behind in most or all of their milestones.
Role that the physiotherapist plays:
Also consults with local Physiotherapist
-May need special seat if there are spinal Problems
-need supported seating for feeding might be special seat
-Liverpool provides this equipment
-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
Poor Weight Gain
Spends a long time eating small amounts
Coughing and choking episodes
Uncoordinated and Messy eater
Recurrent chest infections
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
-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
-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
-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
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