Molecular Physiology Laboratory, Centre for Atherothrombotic and Metabolic Disease, Hull York Medical School, University of Hull, Hull, UK.
Postgrad Med J. 2018 May;94(1111):296-304. doi: 10.1136/postgradmedj-2017-135377. Epub 2018 Jan 31.
Duchenne muscular dystrophy (DMD) is a progressive wasting disease of skeletal and cardiac muscles, representing one of the most common recessive fatal inherited genetic diseases with 1:3500-1:5000 in yearly incidence. It is caused by mutations in the DMD gene that encodes the membrane-associated dystrophin protein. Over the years, many have been the approaches to management of DMD, but despite all efforts, no effective treatment has yet been discovered. Hope for the development of potential therapeutics has followed the recent advances in genome editing and gene therapy. This review gives an overview to DMD and summarises current lines of evidence with regard to treatment and disease management alongside the appropriate considerations.
杜氏肌营养不良症（DMD）是一种进行性肌肉骨骼和心肌消耗疾病，是最常见的隐性致命遗传性疾病之一，年发病率为 1/3500-1/5000。它是由编码膜相关肌营养不良蛋白的 DMD 基因突变引起的。多年来，人们提出了许多 DMD 的管理方法，但尽管付出了很多努力，仍未发现有效的治疗方法。随着基因组编辑和基因治疗的最新进展，人们对潜在治疗方法的希望也越来越大。本文综述了 DMD 的发病机制，并总结了目前在治疗和疾病管理方面的证据，同时考虑了一些相关因素。
