杜氏肌营养不良
肌营养不良蛋白
浪费的
肌营养不良
医学
疾病
心肌病
神经肌肉疾病
生物信息学
病理
内科学
生物
心力衰竭
作者
Dongsheng Duan,Nathalie Goemans,Shin’ichi Takeda,Eugenio Mercuri,Annemieke Aartsma‐Rus
标识
DOI:10.1038/s41572-021-00248-3
摘要
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.
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