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Physical function and mobility in children with congenital myotonic dystrophy
Author(s) -
Pucillo Evan M.,
Dibella Deanna L.,
Hung Man,
Bounsanga Jerry,
Crockett Becky,
Dixon Melissa,
Butterfield Russell J.,
Campbell Craig,
Johnson Nicholas E.
Publication year - 2017
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.25482
Subject(s) - myotonic dystrophy , lean body mass , medicine , muscular dystrophy , myotonia , physical medicine and rehabilitation , physical therapy , grip strength , body weight
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