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Article
Physical Function and Mobility in Children with Congenital Myotonic Dystrophy
Muscle & Nerve
  • Evan M Pucillo, University of Utah School of Medicine
  • Deanna L Dibella, University of Utah School of Medicine
  • Man Hung, University of Utah
  • Jerry Bounsanga, University of Utah
  • Becky Crockett, University of Utah School of Medicine
  • Melissa Dixon, University of Utah School of Medicine
  • Russell J Butterfield, University of Utah
  • Craig Campbell, University of Western Ontario
  • Nicholas E Johnson, University of Utah School of Medicine
Document Type
Article
Publication Date
8-1-2017
URL with Digital Object Identifier
https://doi.org/10.1002/mus.25482
Disciplines
Abstract

INTRODUCTION: Congenital myotonic dystrophy (CDM) occurs when symptoms of myotonic dystrophy present at birth. In this study we evaluated the relationship between physical function, muscle mass, and age to provide an assessment of the disease and help prepare for therapeutic trials.

METHODS: CDM participants performed timed functional tests (TFTs), the first 2 minutes of 6-minute walk tests (2/6MWTs), and myometry tests, and also performed dual-energy X-ray absorption (DEXA) scans. Healthy controls (HCs) performed TFTs, 6MWTs, and myometry.

RESULTS: Thirty-seven children with CDM and 27 HCs (age range 3-13 years) participated in the study. There were significant differences in the 10-meter walk (11.3 seconds in CDM vs. 6.8 seconds in HC) and 2MWT (91 meters in CDM vs. 193 meters in HCs). DEXA lean mass of the right arm correlated with grip strength (r = 0.91), and lean mass of the right leg correlated with 6MWT (r = 0.62).

CONCLUSION: Children with CDM have significant limitations in strength and mobility. The tests performed were reliable, and lean muscle mass may serve as a useful biomarker. Muscle Nerve 56: 224-229, 2017.

Citation Information
Evan M Pucillo, Deanna L Dibella, Man Hung, Jerry Bounsanga, et al.. "Physical Function and Mobility in Children with Congenital Myotonic Dystrophy" Muscle & Nerve Vol. 56 Iss. 2 (2017) p. 224 - 229
Available at: http://works.bepress.com/craig-campbell/10/