Factors of importance for dynamic balance impairment and frequency of falls in individuals with myotonic dystrophy type 1 – A cross-sectional study – Including reference values of Timed Up & Go, 10m walk and step test

ObjectiveThe goal of the study was to identify brain and functional features associated with premanifest phases of adult-onset myotonic dystrophy type 1 (i.e., PreDM1).MethodsThis cross-sectional study included 68 healthy adults (mean age = 43.4 years, SD = 12.9), 13 individuals with PreDM1 (mean age: 47.4 years, SD = 16.3), and 37 individuals with manifest DM1 (mean age = 45.2 years, SD = 9.3). The primary outcome measures included fractional anisotropy (FA), motor measures (Muscle Impairment Rating Scale, Grooved Pegboard, Finger-Tapping Test, and grip force), general cognitive abilities (Wechsler Adult Intelligence Scales), sleep quality (Scales for Outcomes in Parkinson's Disease–Sleep), and apathy (Apathy Evaluation Scale).ResultsIndividuals with PreDM1 exhibited an intermediate level of white matter FA abnormality, where whole-brain FA was lower relative to healthy controls (difference of the estimated marginal mean [EMMdifference] = 0.02, 95% confidence interval (CI) 0.01–0.03, p < 0.001), but the PreDM1 group had significantly higher FA than did individuals with manifest DM1 (EMMdifference = 0.02, 95% CI 0.009–0.03, p < 0.001). Individuals with PreDM1 exhibited reduced performance on the finger-tapping task relative to control peers (EMMdifference = 5.70, 95% CI 0.51–11.00, p = 0.03), but performance of the PreDM1 group was better than that of the manifest DM1 group (EMMdifference = 5.60, 95% CI 0.11–11.00, p = 0.05). Hypersomnolence in PreDM1 was intermediate between controls (EMMdifference = −1.70, 95% CI −3.10–0.35, p = 0.01) and manifest DM1 (EMMdifference = −2.10, 95% CI −3.50–0.60, p = 0.006).ConclusionsOur findings highlight key CNS and functional deficits associated with PreDM1, offering insight in early disease course.

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What Happened with Muscle Force, Dynamic Stability And Falls?- a 10-Year Longitudinal Follow-Up in Adults with Myotonic Dystrophy Type 1

Journal of Neuromuscular Diseases ◽

10.3233/jnd-200521 ◽

2021 ◽

pp. 1-10

Author(s):

Elisabet Hammarén ◽

Lena Kollén

Keyword(s):

Myotonic Dystrophy ◽

Dynamic Stability ◽

Muscle Force ◽

Step Test ◽

Maximum Speed ◽

Myotonic Dystrophy Type 1 ◽

Myotonic Dystrophy Type ◽

Patient Reported ◽

Leg Muscle

Background: Individuals with myotonic dystrophy type 1 (DM1) are known to stumble and fall, but knowledge is scarce regarding dynamic stability in this disorder. Objective: To describe disease progress regarding muscle force, dynamic stability and patient reported unintentional falls during a ten-year period, in individuals with DM1. Methods: Quantification of isometric muscle force in four leg muscle groups and assessment of Timed 10-meter-walk in maximum speed (T10max), Timed Up&Go (TUG) and Step test (STEP) were performed at three occasions in a DM1 cohort, together with self-reported falls. Results: Thirty-four people (m/f:11/23, age:50.2 + /–9.4) participated. The muscle force loss after ten years was large in the distal ankle muscles. A steeper force decrease was seen in most muscles between year five and ten compared to the former five-year period. Males reported more falls than females, 91%vs 35%had fallen last year. A positive correlation, ρ= 0.633, p < 0.001, was shown between walking time (T10max) and number of falls. Frequent fallers were only seen among those with slower walk (T10max > 10seconds), and fewer steps in the STEP test (STEP≤5 steps). Conclusions: A diminishing leg muscle strength and worse dynamic stability were seen in the group, with a steeper decrease in the latter five years. Weak ankle dorsiflexors, a slower walk and difficulties to lift the forefoot were related to frequent falls.

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A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management

Neurology ◽

10.1212/wnl.0000000000006948 ◽

2019 ◽

Vol 92 (8) ◽

pp. e852-e865 ◽

Cited By ~ 15

Author(s):

Emmanuelle Lagrue ◽

Céline Dogan ◽

Marie De Antonio ◽

Frédérique Audic ◽

Nathalie Bach ◽

...

Keyword(s):

Myotonic Dystrophy ◽

Transmission Rate ◽

Gastrointestinal Symptoms ◽

Autism Spectrum ◽

Evidence Based ◽

Myotonic Dystrophy Type 1 ◽

Myotonic Dystrophy Type ◽

Juvenile Form ◽

Cross Sectional

ObjectiveTo genotypically and phenotypically characterize a large pediatric myotonic dystrophy type 1 (DM1) cohort to provide a solid frame of data for future evidence-based health management.MethodsAmong the 2,697 patients with genetically confirmed DM1 included in the French DM-Scope registry, children were enrolled between January 2010 and February 2016 from 24 centers. Comprehensive cross-sectional analysis of most relevant qualitative and quantitative variables was performed.ResultsWe studied 314 children (52% females, with 55% congenital, 31% infantile, 14% juvenile form). The age at inclusion was inversely correlated with the CTG repeat length. The paternal transmission rate was higher than expected, especially in the congenital form (13%). A continuum of highly prevalent neurodevelopmental alterations was observed, including cognitive slowing (83%), attention deficit (64%), written language (64%), and spoken language (63%) disorders. Five percent exhibited autism spectrum disorders. Overall, musculoskeletal impairment was mild. Despite low prevalence, cardiorespiratory impairment could be life-threatening, and frequently occurred early in the first decade (25.9%). Gastrointestinal symptoms (27%) and cataracts (7%) were more frequent than expected, while endocrine or metabolic disorders were scarce.ConclusionsThe pedDM-Scope study details the main genotype and phenotype characteristics of the 3 DM1 pediatric subgroups. It highlights striking profiles that could be useful in health care management (including transition into adulthood) and health policy planning.

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