Objective Myotonic dystrophy type 1 (DM1) is an autosomal-dominant neuromuscular disease with variable severity affecting all ages; however, current care guidelines are adult-focused. The objective of the present study was to profile DM1 in childhood and propose a framework to guide paediatric-focused management.
Design, setting and patients 40 children with DM1 (mean age 12.8 years; range 2–19) were studied retrospectively for a total of 513 follow-up years at Sydney Children’s Hospital. 143 clinical parameters were recorded.
Results The clinical spectrum of disease in childhood differs from adults, with congenital myotonic dystrophy (CDM1) having more severe health issues than childhood-onset/juvenile patients (JDM1). Substantial difficulties with intellectual (CDM1 25/26 96.2%; JDM1 9/10, 90.0%), fine motor (CDM1 23/30, 76.6%; JDM1 6/10, 60.0%), gastrointestinal (CDM1 17/30, 70.0%; JDM1 3/10, 30.0%) and neuromuscular function (CDM1 30/30, 100.0%; JDM1 25/30, 83.3%) were evident.
Conclusion The health consequences of DM1 in childhood are diverse, highlighting the need for paediatric multidisciplinary management approaches that encompass key areas of cognition, musculoskeletal, gastrointestinal, respiratory, cardiac and sleep issues.
- childhood myotonic dystrophy
- clinical manifestations
- clinical management
- quality of life
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Contributors MAF and MC were responsible for the conceptualisation of the study, supervised the analysis process and provided quality control of both data and the final study results. GH and KAC collected and analysed the data and drafted the manuscript. All authors contributed to the selection of the studied variables, interpretation of study findings and revision of the manuscript, and have approved the submitted version of the manuscript.
Funding GH was awarded the David Walsh Memorial Scholarship from the University of New South Wales, used in preparation for this manuscript.
Competing interests None declared.
Patient consent Not required.
Ethics approval The South Eastern Sydney and Illawarra Area Health Service Human Research Ethics Committee approved the study.
Provenance and peer review Not commissioned; externally peer reviewed.
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