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Updated: Sep 19, 2025

Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy

Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy

Published on: January 12, 2019

达恩肌肉衰竭的诊断时间患有或没有发育迟缓的患者

Marco Antônio Veloso de Albuquerque¹, Karla Danielle Lima¹, Fernando Kok¹

¹Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.

Journal of child neurology

|June 18, 2025

概括

杜恩肌肉发育不良可能在早期出现发育迟缓. 早期识别运动,言语或认知迟缓的男孩对于及时诊断和管理至关重要.

科学领域:

神经学神经学
儿科儿科儿科
遗传学是一个遗传学.

背景情况:

杜氏肌肉发育不良 (DMD) 是儿童最常见的遗传性神经肌肉疾病.
虽然通常是晚些时候诊断出来的,但有些男孩出现早期发育迟缓,包括运动,言语或自闭症谱系障碍的症状.

研究的目的:

根据最初的症状,比较杜申肌力发育不良症的男孩的年龄和诊断时间.
调查早期发育迟缓是否会影响DMD的诊断时间表.

主要方法:

对127名患有杜申肌肉衰竭的男孩进行了回顾性描述性研究.
从2015年到2024年,在一个专门的门诊肌肉诊所收集的数据.
分析症状发病时的年龄和诊断的时间,按最初的呈现分层.

主要成果:

诊断DMD的总体平均年龄为6.9岁,平均诊断延迟3.6年.
患有初始发育迟缓的男孩被诊断出,平均而言,比没有初始发育迟缓的男孩早2.7年.
尽管有延迟,但这个群体的早期症状出现在平均年龄为1.4岁.

结论:

杜申肌应考虑在发展迟缓 (运动,言语,认知) 的男孩的差异诊断中.
早期查,包括测量肌酸激酶水平,对于出现发育迟缓的男孩至关重要.

关键词:

在 DMD DMD 里面,你会发现杜琴尼 (Duchennene) 是一个著名的设计师.时间延迟延迟延迟延迟延迟延迟诊断诊断诊断诊断诊断诊断

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