Muscle Study Group



Falls and functional measures in adult-onset

Myotonic Dystrophy type 1: A cross-sectional study

E. Pucillo1, D. DiBella1, M. Pautler1, C. Trujillo1,

M. Hung2, J. Bounsanga2, R. Butterfield1, N. Johnson1

Department of Neurology, University of Utah, Salt Lake City, UT1

Department of Orthopedics, University of Utah, Salt Lake City, UT2

Research Report

Introduction. Myotonic Dystrophy type 1 (DM1) is a commonly inherited muscular dystrophy.[pic]1,2 Motor performance and balance effect mobility and falls in DM1.[pic]3,4 A clearer understanding of falls is needed in this population.[pic]1-6

Objectives. Explore relationships between the modified Dynamic Gait Index (mDGI) and fall history, and other measures of function.

Methods. Participants with DM1 (ages 28-57) performed the mDGI, two-minute walk test (2MWT), 10-meter walk, and a 6-month fall history questionnaire.

Results. Twenty-two adults participated [59% male, 41% female]. Mean(SD) age was 39.59(8.43) years. Mean(SD) mDGI score was 46.23(11.10), 10m walk test was 10.93(3.22)s, and 2MWT was 130.29(38.52)m. Mean(SD) falls was 3.64(3.05), where 18(82%) reported falls.  Fall history and mDGI were not significantly correlated (r=-0.32, p=.15), whereas 2MWT and mDGI were significant (r=0.54, p=.01).

Conclusion. Our participants display poor performance on all measures. Falls are common and pose a safety concern for participants with DM1. These tests may be useful clinical tools to assess function, however, are only modestly associated with fall history.

References

1. Brook JD, McCurrach ME, Harley HG, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell 1992;69:385.

2. Mahadevan M, Tsilfidis C, Sabourin L, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science 1992;255:1253-5.

3. Hammaren E, Kjellby-Wendt G, Kowalski J, Lindberg C. 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. Neuromuscular disorders : NMD 2014;24:207-15.

4. Hammaren E, Kjellby-Wendt G, Lindberg C. Muscle force, balance and falls in muscular impaired individuals with myotonic dystrophy type 1: a five-year prospective cohort study. Neuromuscular disorders : NMD 2015;25:141-8.

5. Heatwole C, Bode R, Nicholas J, et al. The myotonic dystrophy health index: Correlations with clinical tests and patient function. Muscle & nerve 2015.

6. Kroksmark AK, Ekstrom AB, Bjorck E, Tulinius M. Myotonic dystrophy: muscle involvement in relation to disease type and size of expanded CTG-repeat sequence. Dev Med Child Neurol 2005;47:478-85.

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