Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, UNSW Sydney, Sydney, New South Wales, Australia.
Department of Neurology, Sydney Children's Hospital, Randwick, New South Wales, Australia.
Arch Dis Child. 2019 Jan;104(1):48-52. doi: 10.1136/archdischild-2018-314837. Epub 2018 Jun 5.
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.
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.
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.
1 型肌强直性营养不良（DM1）是一种常染色体显性遗传的神经肌肉疾病，其严重程度可随年龄变化而变化，可影响所有年龄段的人群；然而，目前的治疗指南主要针对成年人。本研究的目的是分析儿童 DM1 的特点，并提出一个框架来指导以儿科为重点的管理。
设计、地点和患者：回顾性研究了悉尼儿童医院的 40 名 DM1 儿童（平均年龄 12.8 岁；范围 2-19 岁），共随访 513 年。记录了 143 个临床参数。
儿童期疾病的临床表现与成人不同，先天性肌强直性营养不良（CDM1）的健康问题比儿童发病/青少年患者（JDM1）更严重。智力方面存在严重问题（CDM1 25/26，96.2%；JDM1 9/10，90.0%）、精细运动（CDM1 23/30，76.6%；JDM1 6/10，60.0%）、胃肠道（CDM1 17/30，70.0%；JDM1 3/10，30.0%）和神经肌肉功能（CDM1 30/30，100.0%；JDM1 25/30，83.3%）方面存在明显障碍。
DM1 在儿童期的健康后果是多种多样的，这突出表明需要采用儿科多学科管理方法，涵盖认知、肌肉骨骼、胃肠道、呼吸、心脏和睡眠等关键领域。
