Care recommendations for patients with myotonic dystrophy

Published in 2018 is a consensus based approach for the myotonic dystrophy patient community. This gives general guidelines on how to approach, test and intervene in patients lives to achieve the most optimum outcomes.


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Fatigue and Myotonic dystrophy

Many patients with myotonic dystrophy feel tired. Clicians see these as fatigue which can affect a patients life significantly. A recent study that we are reviewing stated that it may be a combination of fatigue and depression. Depression has been noted in many myotonic dystrophy patients. Here is the conclusion of the study

In summary, these data shows a significantly higher prevalence of perceived fatigue in patients with DM1 than in matched healthy control subjects, with an experienced impact on physical and psychosocial domains.These findings support the inclusion of fatigue as a main target for treatment interventions aimed to reduce fatigue through cognitive behavioral therapy and graded exercise. Such an intervention was recently applied and shown to reduce fatigue,increase activity and improve social participation [38].


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Researchers Narrowing Mechanism of Brain Problems in Myotonic Dystrophy

Many of us in the Myotonic Dystrophy World find that among the most significant factors affecting us are related to brain function. Depression, Lack of Motivation, Apathy, Indifference, and Loss of executive function makes living much less tolerable. In a nutshell these changes create Terrible problems socially and emotionally. Now researchers have identified the issue that they think causes the disease. The good news is that the mechanism for the brain looks like the mechanism for many of the other issues as well. It’s the same as for muscle and other tissues. So if a cure is found in the future it will not just help with heart and muscle it may help with the most devastating issues that of the Brain as well. At the Recent MDF conference in San Fransisco one potential therapy in early stages may work not only in muscle but if injected into the Spinal fluid might help with brain issues.

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Fatigue – Summary Information from Netherlands

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

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

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

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

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

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

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