Evan M Pucillo1, Deanna L Dibella1, Man Hung2,3, Jerry Bounsanga2, Becky Crockett1, Melissa Dixon1, Russell J Butterfield4, Craig Campbell5, Nicholas E Johnson1. 1. Eccles Institute of Human Genetics, Department of Neurology, University of Utah School of Medicine, 15N 2030 East, Salt Lake City, Utah, 84112, USA. 2. Department of Orthopedics, University of Utah, Salt Lake City, Utah, USA. 3. Division of Public Health, University of Utah, Salt Lake City, Utah, USA. 4. Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA. 5. Department of Pediatrics, Clinical Neurological Sciences and Epidemiology, Western University, London, Ontario, Canada.
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.
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:CDMparticipants 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.
Authors: Nicholas E Johnson; Anne-Berit Ekstrom; Craig Campbell; Man Hung; Heather R Adams; Wei Chen; Elizabeth Luebbe; James Hilbert; Richard T Moxley; Chad R Heatwole Journal: Dev Med Child Neurol Date: 2015-10-28 Impact factor: 5.449
Authors: Craig M McDonald; Erik K Henricson; R Ted Abresch; Julaine M Florence; Michelle Eagle; Eduard Gappmaier; Allan M Glanzman; Robert Spiegel; Jay Barth; Gary Elfring; Allen Reha; Stuart Peltz Journal: Muscle Nerve Date: 2013-06-26 Impact factor: 3.217
Authors: J W Witherspoon; R Vasavada; R H Logaraj; M Waite; J Collins; C Shieh; K Meilleur; C Bönnemann; M Jain Journal: Eur J Paediatr Neurol Date: 2018-10-23 Impact factor: 3.140