Yiu Eppie M, Kornberg Andrew J
Children's Neuroscience Centre, Royal Children's Hospital Melbourne, Australia.
Neurol India. 2008 Jul-Sep;56(3):236-47. doi: 10.4103/0028-3886.43441.
Duchenne muscular dystrophy (DMD), an X-linked disorder, is the most common muscular dystrophy in children, presenting in early childhood and characterized by proximal muscle weakness and calf hypertrophy in affected boys. Patients usually become wheelchair-bound by the age of 12 years, and die of cardiorespiratory complications in their late teens to early twenties. Advances in the management of DMD, including treatment with corticosteroids and the use of intermittent positive pressure ventilation have provided improvements in function, ambulation, quality of life and life expectancy, although novel therapies still aim to provide a cure for this devastating disorder. The clinical features, investigations, and management of DMD are reviewed, as well as the latest in some of the novel therapies.
杜氏肌营养不良症（DMD）是一种X连锁疾病，是儿童中最常见的肌营养不良症，在幼儿期发病，患病男孩的特征为近端肌无力和小腿肥大。患者通常在12岁时就需要依靠轮椅行动，并在十几岁后期至二十出头时死于心肺并发症。尽管新型疗法仍旨在治愈这种毁灭性疾病，但DMD管理方面的进展，包括使用皮质类固醇治疗和间歇性正压通气，已使患者在功能、行走能力、生活质量和预期寿命方面有所改善。本文综述了DMD的临床特征、检查和管理，以及一些新型疗法的最新情况。
