Duchenne muscular dystrophy

Korte inhoud: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.

Jaar van publicatie:2021

Trefwoorden:Algemene en interne geneeskunde

BOF-keylabel:ja

IOF-keylabel:ja

BOF-publication weight:10

CSS-citation score:4

Auteurs:International

Authors from:Higher Education

Toegankelijkheid:Open

Reviewstatus:Peerreview