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Arch Dis Child. 2019 Jan;104(1):48-52. doi: 10.1136/archdischild-2018-314837. Epub 2018 Jun 5.

Myotonic dystrophy type 1: clinical manifestations in children and adolescents.

Author information

1
Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, UNSW Sydney, Sydney, New South Wales, Australia.
2
Department of Neurology, Sydney Children's Hospital, Randwick, New South Wales, Australia.

Abstract

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.

KEYWORDS:

childhood myotonic dystrophy; clinical management; clinical manifestations; neuromuscular; quality of life

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