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Inventor, entrepreneur, father, medical device manager.

Fatigue and Myotonic Dystrophy

Posted on December 4, 2011 by Richard

Fatigue
MYOTONIC DYSTROPHY AND FATIGUE

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

Complaints of fatigue are often heard and are not particularly related to muscular diseases; with many diseases fatigue is one of the symptoms. At the same time fatigue is a normal phenomenon with healthy people. Fatigue is mentioned with and without lack of sleep, with and without preceding “fatiguing” pursuits. Often “I am tired” means “I just don’t feel like it”. In daily life the word “tired” is used for a variety of situations with few correspondence.

How about fatigue with people suffering from myotonic dystrophy? This disease is attended with muscle-weakness and if this weakness is substantial many things such as walking get more fatiguing. Yet this is not the type of fatigue patients or their inmates do complain about. There are two different problems which probably are related.

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

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

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

How to cope with these problems? Before proceeding: At this very moment there is no general remedy. Nevertheless there is more to tell about it.

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

Editors Note: In 2016 a new study done in Japan showed some promise of Erythromycin helping with muscles. This might help with fatigue as well. See this Link

Swiss MDA

Posted on December 4, 2011 by Richard

ASRIM

Assocation de la Suisse Romande et Italenne sontre les Myopathies

After meeting with the NHR in Sweden I ventured to Switzerland. It was a two hour flight and I was in Zurich. However, I arrived late and there was no way to get a train to Les Diablerets where the local meeting was to be held. After a three hour train ride I ended in Ailge and a friendly cab driver took me to the hotel. Lucky thing as they had a full blown party going on…In the morning I took the train up the hill and found the destination.

I initially wanted to meet with Ms. Piguet and luckily on Saturday they were having a outing to which the members were invited. I was also invited and thank my hostess. About 200 members did attend this meeting. The meeting was at the Masion de Congres in Les Diablerets, Switzerland and the hotel that we stayed at was Hotel de la Source. http://www.hotel-les-cources.ch

It was a grand meeting and Ms. Lilo Piguet was my hostess and I found many guests who spoke English. I was introduced to the president of the association as well as many other fine guests. We had a chance to talk, and there were small small things to eat as well as some orange juice and some Swiss wine (Which is very good!).

After talking we went to have some lunch and then the president gave a speech in French which I did not understand but he did introduce me as a delegate from the USA. There was a lot of good information sharing.

Unfortunately, there were no members there with the myotonic form of muscular dystrophy. The ASRIM does have several members with this disease but none attended this particular meeting. I did meet several families with other children with DM.

One thing that is not as advanced in Europe is the accessibility. The laws in Switzerland are not uniform and run according to each state or Canton. So more federal legislation is needed but this is difficult in the way the government is set up. This is also true of France. The USA seems to have some of the best laws for access.

Everyone appreciates the summer camp that is held. They have about 7-9 days at the summer camp for young people. Respite care is not as readily available in Switzerland.

They also hold a telethon that raises a lot of money for research for Muscular Dystrophy. Most of the money collected goes to research. Not as much is available for day to day management of the disease. The telethon was held in a building in the Les Diablerets area. The local craftsman raised this building in 36 hours. It was later moved to the Hotel Les Sources in Les Diablerets. It is a beautiful structure.

I had a very nice lunch with the Jowlett’s and also Eve and Henve Bozec. I thank them very much for their kind hospitality.

Here are some Photo’s from the conference

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Muscular dystrophy organization Sweden NHR

Posted on December 4, 2011 by Richard

NHR SWEDEN

Richard Weston was fortunate enough to meet with the NHR in Sweden in August of 2001. Sweden is an interesting country with 9 million people. They speak English in most cases as well as Swedish. The country is very modern and well maintained. It was a pleasure visiting with the NHR. Here is some information gathered from that trip.

Formed in 1957 as an organization for MS and now has 120 local branches. Most of the work of the organization is done at the local branch level. The organization takes care of many neurological problems including MS, stroke, MD, Parkinson’s, etc. They do not diagnosis members and they have about 15,000 members but it unclear how many have a specific muscle disease.

They have a couple of goals:
Take care of the general disabled issues (accessibility, general issues)
Take care of specific areas and they have 14 advisory boards for this
Maintain a foundation for research with a $300,000 budget
Organize two fairs each year

One for Technical Aids for the Disabled
One for transportation and movement of the disabled
NHR receives about 25% of its budget from the government
Many aids and wheelchairs are paid for by the government
They provide education to community professionals on transportation and movement
They have a mocked up house with ideas for the disabled. The house is actually set up with appliances and furniture that fits the disabled.

The NHR helps with general information on Myotonic Dystrophy but does not have a specific program to assist them. The address is NHR, Kungsgatan 32, Stockholm Sweden.

I meet with Brigitta Netterlund of the NHR who wrote some very interesting information about MD. She is an occupational therapist from the university.

The Photo Gallery

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Toliet Training for kids and adults

Posted on December 4, 2011 by Richard

Almost all children with CMD will have delayed toilet training. Delays to years 8-15+ have been known. There can be involvement and weakness with the anal sphincter muscle which will cause involuntary problems with toilet training. I am still gathering information on this section……

Some information from MDA USA: (Dr. Ed Goldstein MDA Clinic Director Atlanta)

Q:Any suggestions with Toilet Training 6 1/2 year old. We have work on this with no success
A: As per your difficulty with Toilet training, this may result from any of the above noted factors (Learning disabilities, Attention Deficit Hyperactivity Disorder (ADHD), Learning Disabilities LD)in additional to intrinsic abnormalities of bowel/bladder function secondary to myotonic muscular dystrophy. You may want to explore possible medical aspects of this problem with your physician. If they don’t feel that there is an underlying health problem producing your son’s accidents consider further behavioral interventions. Only attempt to correct one or two behaviors at a time. Consider using time cycling in which the patient is placed on the toilet on a strictly enforced schedule and strong positive reinforcements for successful performance. This may consists of treats, a star chart, reading or video period in the bathroom. Frequently parents are best able to judge those rewards which are most likely to produce the desired behavior in their children.

Basically, your on your own on toilet training the local doctor will refer you to the clinic which probably will not be able to help you. Its really up to the parents to execute toilet training which will require dedication. A good book on this is “Steps to Independence By Bruce L. Baker. It is available from: Paul H. Brookes Publishing Company PO Box 10624 Baltimore, MD 21285 United States of America (Also Offices in Sydney and London) Last Resort……….=====>Toilet Training Web Site

There may be involvement of the Colon with CMD. Harper reports that recurrent diarrhea as well as abdominal distention, colonic dilation and abnormal colonic peristalsis were reported in one 8 year apparently unaffected but then myotonic potentials were seen. Thus smooth muscle problems of the colon may be the first and only initial features of (Standard) Myotonic Dystrophy.

More information from a medical study

In the USA the Kimberly Clark corporation make a product called Good-Nites which is a diaper/Nappy that resembles regular underwear. They have a website. http://www.goodnites.com . They come in sizes up to X-Large 85 pounds plus. These might be helpful in managing incontinence.

This condition is also know as Encopresis. Here is a web page devoted to that subject Link to Encopresis page. This is a very comprehensive page that may assist you through this problem.

Here is a useful article on Encopresis from the American family Physician

Richard Weston's Myotonic Dystrophy Blog

Information About Myotonic Dystrophy Type 1

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About Richard

Fatigue and Myotonic Dystrophy

Swiss MDA

Muscular dystrophy organization Sweden NHR