Yiu Eppie M, Kornberg Andrew J
Neurology Department, Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia.
Bruce Lefroy Centre, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.
J Paediatr Child Health. 2015 Aug;51(8):759-64. doi: 10.1111/jpc.12868. Epub 2015 Mar 9.
Duchenne muscular dystrophy, an X-linked disorder, has an incidence of one in 5000 boys and presents in early childhood with proximal muscle weakness. Untreated boys become wheelchair bound by the age of 12 years and die of cardiorespiratory complications in their late teens to early 20s. The use of corticosteroids, non-invasive respiratory support, and active surveillance and management of associated complications have improved ambulation, function, quality of life and life expectancy. The clinical features, investigations and management of Duchenne muscular dystrophy are reviewed, as well as the latest in some of the novel therapies.
杜氏肌营养不良症是一种X连锁疾病，在5000名男孩中的发病率为1，在儿童早期出现近端肌无力。未经治疗的男孩在12岁时就会需要轮椅代步，并在十几岁后期至20岁出头时死于心肺并发症。使用皮质类固醇、无创呼吸支持以及对相关并发症进行积极监测和管理，改善了行走能力、功能、生活质量和预期寿命。本文综述了杜氏肌营养不良症的临床特征、检查和管理，以及一些新型疗法的最新情况。
