Males are worse off in Myotonic Dystrophy

A new study shows that males seem to be worse off on a number of factors when they have myotonic dystrophy. Social economic ($$$$) money issues as well as from a health standpoint they do not do as well as females. The full study can be seen here Gender and Myotonic Dystrophy

 

SUMMARY

Our study revealed the multidimensional influence of gender in DM1. First, maternal inheritance was associated with longer repeat expansions and more severe phenotype, as previously reported [5, 6]. This has been attributed to marked DNA instability in the female germ cell lineage allowing additional triplets insertion during oogenesis [43]. Such instability also results to an anticipation in case of maternal inheritance, a phenomenon corresponding to earlier onset and more severe symptoms observed in successive generations [10]. Surprisingly, and in contrast to the general assumptions, we observed that fathers transmitted up to 9% of neonatalonset (mild or severe) forms and 50% of infantile forms, especially those with lower cognitive impairment. Another unexpected observation was that only a minority of overall DM1 patients(37%) had maternal inheritance, which is most unusual for an autosomal dominant inherited disease. It probably results from increased miscarriage and perinatal lethality observed in female DM1 transmitters.

The second gender difference implied an unequal prevalence of several DM1 signs and symptoms in men and women. These differences could not be accounted for overall quantitative male-to-female disproportion in our study population (considered in all statistical analysis),or for the age and genotype differences between the two groups. Men tended to have more obvious classical DM1 symptoms, combining cognitive impairment, marked myotonia,cardiac and respiratory involvement whereas women had more extra-muscular and lateonset manifestations, less suggestive of DM1, such as cataracts, obesity, dysthyroidism, G Isymptoms and sphincter dysfunction. The most poorly symptomatic patients were women,implicating occasional hidden DM1 transmissions by undiagnosed female mutation carriers.

In practice, the sex-related differential risks of developing specific manifestations may require sex-orientated care management, which should be specifically adapted for men (at higher risk of mechanical ventilation, respiratory failure or cardiac conduction defects,which could provide more frequent hospitalization and increased mortality according PMSI database) as well as for women (at higher risk of thyroidism, obesity, sphincter dysfunction,and cataracts). This gender disproportion suggests that women could be more carefulwith their own health. This is underlined by FDM-S survey showing a similar number ofannual routine visits to the cardiologist and pneumonologist for both genders, despite male have more cardiac and respiratory involvement, which should prompt more regular medical care. Altogether, the results highlight the importance of a greater awareness about preventive medical care in DM1 male individuals.

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Symptoms that Bother Patients with DM1 the Most

The study looked at  PRISM-1 for “patient-reported impact of symptoms in myotonic dystrophy type 1″ — was conducted in two parts. What was surprising is that Fatigue and mobility are the two items that affect Dm1 patients the most.

Phase 1 involved interviews with 20 people age 21 or older with adult-onset MMD1. (People with congenital- or juvenile-onset MMD1 were not included in this study. These diseases have separate symptoms, onsets, and progression paths)

In the interviews, people were asked to identify the symptoms of DM1 that have the greatest effect on their lives. Recurring similar comments were grouped to identify 221 important DM1 symptoms, which the investigators then divided into 14 themes. All 20 people who were invited to participate in this phase did so.

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Ritalin and Daytime Sleepiness in Myotonic Dystrophy

Sleepiness is a  issue with some adults and children with Myotonic Dystrophy. Sleepiness or Hypersomnia can have great impact on the social life of patients with myotonic dystrophy. Some patients have reported relief with Provigil although studies have indicated that there is no overall benefit. Provigil may work to help mobilize the sleep patterns so that a person can attend an event but then catch up on sleep later. A new study is looking at a different drug.

This study is by one of the worlds experts in the Disease (DM1) Dr. Puymirat in Quebec, Canada. This article  studies Dr. J PuyrimatRitalin (20mg) and Myotonic dystrophy related to sleepiness with some good results. However, it is noted that palpitations are a side effect of the study. The risks with Ritalin are low but make sure to see a cardiologist before using or having Ritalin prescribed.

Clin Ther. 2012 May;34(5):1103-11.
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Fatigue

DEALING WITH FATIGUE CAUSED BY MYOTONIC DYSTROPHY

This is based on a lecture delivered at the yearly meeting organized in October 2000, in the Netherlands, by the “Werkgroep Myotone Dystrofie” for patients and other people involved in myotonic dystrophy. Dr. Karlein Schreurs, Health Psychology, University of Utrecht, prepared this lecture. Email to the coordinator of this group: cees.duijndam@wanadoo.nl

Introduction
The work group asked me to prepare a lecture about dealing with fatigue. So I expect that fatigue is a problem for the majority of my audience. The Muscular Disease Association of The Netherlands (VSN) also publishes this. Out of 900 articles on MD (Myotonic Dystrophy) published during the last three years in the international press, eleven were dealing with fatigue. It is obviously a serious problem for many patients but up till now few research-workers pay attention to it. From where is this discrepancy?

Apparently many patients with MD consider fatigue as a symptom that is part of the disease and cannot be cured. I do hope that I can convince you that this is not always true. It is indeed possible to take measures.

A second explanation for this lack of attention for fatigue with MD is the fact that it is difficult to define fatigue.

What is fatigue?

The question seems superfluous. Everybody knows how fatigue feels. However, often we do not mean the same thing. Normally we think of fatigue when a person has worked hard and consequently is physically exhausted. This fatigue is the lack of energy that someone experiences after performing physical exertion. But also people who have been behind their desks for a whole day may complain of tiredness in the evening. At the end of the day they often think it difficult to concentrate and they forget things easier. These too are manifestations of fatigue after mental stress. A person who is bored feels also tired. After a serious flue you may be unpleasantly caught when daily tasks require more effort than usual. Here fatigue is caused by deterioration of one’s physical condition. We can also think of periods when we feel down and sad. We are not in the mood to undertake things because we feel tired. Here fatigue is caused by one’s emotional mood. Finally it appears that fatigue varies from not feeling fit to total exhaustion. In conclusion, we seem to generalize when we speak of fatigue. Fatigue however is a collective noun for an extensive range of varieties.

Countermeasures that fight with success a certain type of fatigue may fail if they are used to fight another type. Here we should make difference between short acute fatigue and long-term chronic fatigue. The differentiation is not only based on the duration of the fatigue. Opposed to short acute fatigue long-term fatigue is often not related to the degree of exertion. A person feels physically tired or finds it difficult to concentrate irrespective of the amount of effort; taking a rest mostly does not cure this type of fatigue. A frequently used questionnaire for fatigue differentiates between physical and mental fatigue and the consequences of fatigue: A slowing down of activities, but also a decrease in willingness to be active (reduced motivation). (Smets e.a. 1995).

Causes
What causes fatigue in people with MD?  This is an unclear area; often more causes can be identified. Muscle-weakness is a symptom of the disease; the disease causing slowness, apathy and lack of initiative may also affect the brains.read more

The physical vicious circle

The normal reaction to physical fatigue is rest. Rest does not help when fatigue has a chronic nature. As rest is the accepted remedy for tiredness, most people will rest even more than usual, also influenced by their environment. They hardly have any physical activity. This inactivity deteriorates their physical condition. In this situation any form of activity tires more quickly. The result leads to diminished activity and means therefore less diversion; this now causes the patient to feel more tired. This circle may be broken up by an adapted daily routine. Attention: This routine does not mean to stop completely taking a rest. We are talking of alternation of activities and rest, adapted to the physical abilities. The muscle weakness and loss of power with MD may complicate it even more. Some muscles are weak and it was found that muscle-reinforcing exercises almost not effect the affected muscles (Lindeman, Spaans, Reulen, Leffers, Drukker, 1999). But it came out that exercises do not harm. It is important to exercise the not-affected muscles to optimise their condition without entertaining unreal expectations.

The psychological vicious circle

The second vicious circle relates to psychological factors, which either maintain or intensify fatigue.  If someone feels tired very often he or she may find out that resting hardly helps and therefore it seems that fatigue can hardly be managed.  This leads to low spirits and helplessness.  This depression makes people less inclined to be active and this will result in less activity and less diversion causing a person to feel totally overpowered by fatigue.  In this case looking for control over the situation can break a circle.

It is well known that controlling their situation helps people to feel well.  Often people feel less depressed and it helps to organise the day-to-day routine.  As soon as people pursue a more active lifestyle, social contacts and activities will increase resulting in reduced focus on fatigue.

Remedies
You may wonder how to control the situation.  There are no instant solutions but there are a few approaches.  A first way to get some control is to identify the effects of fatigue, is there a medical solution? read more

Conceptions
Research among people with a chronic fatigue syndrome shows that fatigue is intensified and maintained by high standards and strong principles. Demanding people who are perfectionists run the risk of trying to pursue the impossible, which will exhaust them. This regards principles like: “Everything I do should be perfect, or “Whatever I start I’ll finish it” or “I never reject my duty”. Such principles may seem commendable, but if your energy is limited there will be nothing left after fulfilling the duty. There is nothing wrong when splitting up a job in several pieces. We are often not aware that our behaviour is controlled by this attitude. If you feel unhappy and you find out that you are feeling chased, it is worth while to try to find the cause of those feelings. You may ask yourself questions on the consequences of your conceptions and on your willingness to pay the price for such behaviour

Social aspects

Your partner is also facing the consequences of your disease. The partner wishes to support but is also troubled by fear, concern and helplessness.

When you leave your house by yourself for the first time after a long period of time, your partner may get very anxious about it. Also your partner may think to help you by doing every little job for you. This will make you less active than actually necessary. Discuss such matters with your partner.Finally it is well known that people with a chronic disease tend to withdraw from social life. Fatigue reinforces this tendency. This will deprive you of possible diversion, which again does not help to overcome fatigue and other symptoms. You will also miss possible support, which other people might give you. It is true that people may sometimes react improperly to your fatigue. If you show that you are tired often people will say: “All of us get tired from time to time.” Then the choice is yours: You withdraw from social life because nobody seems to understand you or you explain people that your form of fatigue is different from the usual short fatigue.

With this choice we come back to the beginning of my thesis: “Fatigue may be a symptom of Myotonic Dystrophy but this does not mean that nothing can be done”.Everybody can manage fatigue and its consequences better than you might think, hut this does not occur automatically.

FATIGUE DIARY

Date
Period M A E M A E M E A M E A M E A M E A M E A
3 exhausted
2 tired
1 unfit
Medication
Activities
Date
Period M A E M A E M E A M E A M E A M E A M E A
3 exhausted
2 tired
1 unfit
Medication
Activities
Date
Period M A E M A E M E A M E A M E A M E A M E A
3 exhausted
2 tired
1 unfit
Medication
Activities
Date
Period M A E M A E M E A M E A M E A M E A M E A
3 exhausted
2 tired
1 unfit
Medication
Activities
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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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