Title

Physical Function and Mobility in Children with Congenital Myotonic Dystrophy

Document Type

Article

Publication Date

8-1-2017

Publication Title

Muscle and Nerve

ISSN

1097-4598

Medical Subject Headings

Absorptiometry, Photon; Adolescent; Child; Child, Preschool; Cross-Sectional Studies; Female; Hand Strength; Humans; Male; Muscle Contraction; Myotonic Dystrophy; Statistics, Nonparametric; Time Factors; Walking

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.

Volume

56

Issue

2

First Page

224

Last Page

229

PubMed ID

27859360

Comments

Published in final form as:

Pucillo EM, Dibella DL, Hung M, Bounsanga J, Crockett B, Dixon M, Butterfield RJ, Campbell C, Johnson NE. Physical function and mobility in children with congenital myotonic dystrophy. Muscle & Nerve. 2017 Aug;56(2):224-229. https://doi.org/10.1002/mus.25482

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