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Physical function and mobility in children with congenital myotonic dystrophy
Evan M Pucillo1, Deanna L Dibella1, Man Hung2,3
1Eccles Institute of Human Genetics, Department of Neurology, University of Utah School of Medicine, 15N 2030 East, Salt Lake City, Utah, 84112, USA.
Insights
Congenital myotonic dystrophy (CDM) causes significant strength and mobility issues in children. Lean muscle mass is a reliable biomarker for assessing physical function in CDM patients.
Area of Science:
- Neurology
- Pediatrics
- Genetics
Background:
- Congenital myotonic dystrophy (CDM) is a severe form of myotonic dystrophy presenting at birth.
- Understanding the physical function and muscle mass in CDM is crucial for managing the condition and developing treatments.
Purpose of the Study:
- To evaluate the relationship between physical function, muscle mass, and age in children with CDM.
- To establish reliable assessment methods for CDM and prepare for future therapeutic trials.
Main Methods:
- Participants included 37 children with CDM and 27 healthy controls (HCs), aged 3-13 years.
- Evaluated physical function using timed functional tests (TFTs) and 2-minute walk tests (2MWTs).
- Assessed muscle mass using dual-energy X-ray absorption (DEXA) scans and myometry.
Main Results:
- Children with CDM demonstrated significant limitations in walking speed and distance compared to HCs.
- Lean arm mass correlated strongly with grip strength (r=0.91).
- Lean leg mass showed a significant correlation with 6-minute walk test performance (r=0.62).
Conclusions:
- Children with CDM experience considerable deficits in strength and mobility.
- The functional tests employed were reliable for assessing CDM.
- Lean muscle mass is a potential biomarker for evaluating physical status in CDM.
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.
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