Falls and resulting fractures in Myotonic Dystrophy: Results from a multinational retrospective survey

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.

High incidence of falls in patients with myotonic dystrophy type 1 and 2: A prospective study

“…FSHD, underlines the social and clinical relevance of falls in DM [39,40] . Although no fractures were observed in the current study (lasting 100 days), a recent multinational retrospective survey on falls in DM1 estimated the prevalence of fall-associated fractures in the preceding 12 months to be 17% [17] .…”

Core Clinical Phenotypes in Myotonic Dystrophies

“…In DM1, patients present with characteristic distally predominant muscular atrophy and weakness mainly involving finger flexors, wrist flexors, and foot extensors (Figures 1 A,B). The latter will cause foot drop and gait disturbance with repeated falls and injuries ( 31 ). In contrast to this, muscle weakness in DM2 is typically proximal and axial, affecting more consistently the neck flexors, hip flexors, and hip extensors (Figure 1 C) ( 30 , 32 ).…”

“…There is some debate as to whether peripheral neuropathy is a multisystemic manifestation of DMs or are caused by metabolic and endocrine dysfunctions. Its manifestation is not typical at early stages of the disease but may occur in about one-third of patients in later stages ( 97 ) of DM1 patients and contributes to balance impairment and increased risk of falls ( 31 , 98 ). There were no significant correlations between age, duration of neuromuscular symptoms or CTG-repeat size ( 98 , 99 ), suggesting that the affection of peripheral nerve system is secondary to metabolic and endocrine dysfunctions.…”

DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies

“…Since then, various laboratories have attempted to correlate, more or less successfully, CTG repeat length, symptoms severity, clinical features, and the classification of clinical forms. The recent developments of registries and cohort studies have made it possible to better characterize the variability of symptoms in populations, and they are valuable tools for correlation studies [5][6][7][8][9][10][11][12][13][14][15]. A recent systematic study performed by the French DM-scope registry has carefully revisited the classification of the disease forms and identified five subtypes in the broad clinical spectrum ( Figure 1 and Table 1) [6,7].…”