Falling Down and Myotonic Dystrophy

falling down in myotonic dystrophy

New information available that will help lend insite into this pervasive problem with myotonic dystrophy. Here is the link to the full study https://www.sciencedirect.com/science/article/pii/S0960896617314037

Highlights

  • This is the first high scale survey for falls and fractures for Myotonic Dystrophy 1.
  • DM1 adults showed 2.3 more risk of falling than a healthy adult over 65 years of age.
  • These results presented no impact of respondent sex for risk of falls.
  • Age showed to be a significant predictor for falls in DM1.
  • Falls in DM1 are still an unpredicted & underestimated factor that requires attention.

Abstract

Myotonic Dystrophy type 1 multisystem involvement leads to functional impairment with an increased risk of falling. This multinational study estimates the prevalence of falls and fall-associated fractures. A web-based survey among disease-specific registries (Germany, UK and The Netherlands) was carried out among DM1 ambulant adults with a total of 573 responses retrieved. Results provided a risk ratio estimation of 30%–72% for falls and of 11%–17% for associated fractures. There was no significant difference for falls between male and female, but there was for fall-related fractures with a higher prevalence in women. Balance and leg weakness were the most commonly reported causes for falling. This study is based on a voluntary retrospective survey with naturally inherent limitations; however, the sample size allows for robust comparisons. The estimated risk of falls in this cohort with a mean age of 46 years compares to a previous estimation for a healthy population of over 65 years of age. These results suggest a premature-ageing DM1 phenotype with an increased risk of falling depending on age and disease severity that, so far, might have been underestimated. This may have clinical implications for the development of care guidelines and when testing new interventions in this population.

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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].

Fatigue-and-Myotonic-Dystrophy

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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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