Muchir Antoine
Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, Paris, France.
Skelet Muscle. 2025 Sep 9;15(1):25. doi: 10.1186/s13395-025-00394-2.
Duchenne muscular dystrophy (DMD) is a severe, progressive genetic disorder caused by mutations in the DMD gene, resulting in the absence of dystrophin-a key structural protein at the sarcolemma. As the disease progresses, cardiac involvement becomes a leading cause of morbidity and mortality. By adolescence or early adulthood, many patients develop dilated cardiomyopathy and arrhythmias. Like skeletal muscle, cardiac muscle in DMD patients lacks dystrophin and undergoes similar degenerative changes, ultimately leading to ventricular dilation, systolic dysfunction, and heart failure. Early detection and proactive management of cardiac dysfunction are essential for optimizing outcomes. Despite significant advances and decades of research, a definitive cure for DMD remains elusive. In recognition of World Duchenne Awareness Day, this review highlights current and emerging therapeutic strategies with the potential to transform cardiac care in DMD and improve the lives of those affected.
杜兴氏肌肉营养不良症（DMD）是一种严重的、进行性的遗传性疾病，由DMD基因突变引起，导致肌膜上缺乏抗肌萎缩蛋白——一种关键的结构蛋白。随着疾病的进展，心脏受累成为发病和死亡的主要原因。到青春期或成年早期，许多患者会发展为扩张型心肌病和心律失常。与骨骼肌一样，DMD患者的心肌也缺乏抗肌萎缩蛋白，并经历类似的退行性变化，最终导致心室扩张、收缩功能障碍和心力衰竭。早期发现和积极管理心脏功能障碍对于优化治疗结果至关重要。尽管取得了重大进展并经过了数十年的研究，但DMD的 definitive cure仍然难以捉摸。为纪念世界杜兴氏肌肉营养不良症宣传日，本综述重点介绍了当前和新兴的治疗策略，这些策略有可能改变DMD的心脏护理并改善患者的生活。 （注：这里“definitive cure”直译为“明确的治愈方法”，结合语境意译为“根治方法”更合适，但按要求未添加解释，保留了原文表述）
