Paediatric Neurology Department, Children's Hospital, London Health Science Centre, 800 Commissioners Road East, PO Box 5012, London, Ontario, Canada, N6A 5W9.
Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.
Muscle Nerve. 2019 Aug;60(2):176-179. doi: 10.1002/mus.26509. Epub 2019 Jun 10.
Congenital myotonic dystrophy (CDM) is a rare neuromuscular disorder characterized by severe hypotonia and muscle weakness at birth that tends to improve with age. Understanding lean body and bone mass in this population has important research and clinical implications. The main objective of this study was to determine whether older children with CDM had muscle mass similar to healthy controls.
Thirty-five patients with CDM (3-13 years old) were enrolled. We analyzed lean body mass (LBM) and bone mineral content using the mechanostat framework, which allows calculation of z-scores for sex, age, and height.
All patients had low LBM z-scores (muscle mass); however, higher LBM z-score was positively correlated with age (r = 0.45, P = 0.006), showing that it is closer to normal in older patients.
Unlike other neuromuscular diseases, older children with CDM have a muscle mass closer to age-matched controls, consistent with the clinical profile of increasing strength in childhood. Muscle Nerve 60: 176-179, 2019.
先天性肌强直性营养不良（CDM）是一种罕见的神经肌肉疾病，其特征是出生时存在严重的低张力和肌肉无力，且随着年龄的增长而逐渐改善。了解该人群的瘦体重和骨量具有重要的研究和临床意义。本研究的主要目的是确定年长的 CDM 患儿的肌肉质量是否与健康对照组相似。
纳入 35 名 CDM 患者（3-13 岁）。我们使用机械系统框架分析了瘦体重（LBM）和骨矿物质含量，该框架允许计算性别、年龄和身高的 z 分数。
所有患者的 LBM z 分数（肌肉质量）均较低；然而，较高的 LBM z 分数与年龄呈正相关（r = 0.45，P = 0.006），表明年长患者的 LBM 更接近正常。
与其他神经肌肉疾病不同，年长的 CDM 患儿的肌肉质量更接近年龄匹配的对照组，这与儿童时期肌力逐渐增强的临床特征一致。《肌肉与神经》60：176-179，2019 年。
