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Myotonic dystrophy type 1: Clinical manifestations in children and adolescents

Archives of Diseases in Childhood Jun 08, 2018

Ho G, et al. - Researchers retrospectively studied 40 children with myotonic dystrophy type 1 (DM1) (mean age 12.8 years; range 2–19) for a total of 513 follow-up years at Sydney Children’s Hospital to characterize DM1 in childhood and propose a framework to guide pediatric-focused management. They recorded 143 clinical parameters in this investigation. The results obtained from the study indicate that the health consequences of DM1 in childhood were different, with congenital myotonic dystrophy having more severe health issues than childhood-onset/juvenile patients. It was clear that there were substantial difficulties with intellectual, fine motor, gastrointestinal, and neuromuscular function among these patients. Pediatric multidisciplinary management approaches need to encompass key areas of cognition, musculoskeletal, gastrointestinal, respiratory, cardiac and sleep issues.

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