Duchenne muscular dystrophy is a severe, progressive, muscle-wasting disease that leads to difficulties with movement and, eventually, to the need for assisted ventilation and premature death. The disease is caused by mutations in DMD (encoding dystrophin) that abolish the production of dystrophin in muscle. Muscles without dystrophin are more sensitive to damage, resulting in progressive loss of muscle tissue and function, in addition to cardiomyopathy. Recent studies have greatly deepened our understanding of the primary and secondary pathogenetic mechanisms. Guidelines for the multidisciplinary care for Duchenne muscular dystrophy that address obtaining a genetic diagnosis and managing the various aspects of the disease have been established. In addition, a number of therapies that aim to restore the missing dystrophin protein or address secondary pathology have received regulatory approval and many others are in clinical development.

杜氏肌营养不良症是一种严重的进行性肌肉萎缩疾病，会导致运动困难，最终导致需要辅助通气和过早死亡。这种疾病是由DMD（编码肌营养不良蛋白）突变引起的，这种突变会破坏肌肉中肌营养不良蛋白的产生。没有肌营养不良蛋白的肌肉对损伤更加敏感，除了心肌病之外，还会导致肌肉组织和功能的逐渐丧失。最近的研究极大地加深了我们对原发和继发发病机制的理解。杜氏肌营养不良症的多学科护理指南已经制定，其中涉及获得基因诊断和管理该疾病的各个方面。此外，许多旨在恢复缺失的肌营养不良蛋白或解决继发性病理学的疗法已获得监管部门的批准，还有许多其他疗法正在临床开发中。