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. 2017 Aug;56(2):224-229.
doi: 10.1002/mus.25482. Epub 2017 Feb 13.

Physical function and mobility in children with congenital myotonic dystrophy

Evan M Pucillo  1 , Deanna L Dibella  1 , Man Hung  2   3 , Jerry Bounsanga  2 , Becky Crockett  1 , Melissa Dixon  1 , Russell J Butterfield  4 , Craig Campbell  5 , Nicholas E Johnson  1
Affiliations

Physical function and mobility in children with congenital myotonic dystrophy

Evan M Pucillo et al. Muscle Nerve. 2017 Aug.

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.

Keywords: 6-minute walk test; congenital myotonic dystrophy; functional outcomes; myotonic dystrophy, mobility measures.

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Figures

Figure 1
Figure 1. Comparison of TFTs for CDM and HC by age
Figure 2
Figure 2. Bland-Altman graphs of 2MWT and 6MWT test-retest reliability
See this image and copyright information in PMC

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