Duchenne muscular dystrophy

Nat Rev Dis Primers. 2021 Feb 18;7(1):13. doi: 10.1038/s41572-021-00248-3.

Dongsheng Duan ¹, Nathalie Goemans ², Shin'ichi Takeda ³, Eugenio Mercuri ⁴ ⁵, Annemieke Aartsma-Rus ⁶

Affiliations

1 Department of Molecular Microbiology and Immunology and Department of Neurology, School of Medicine; Department of Biomedical Sciences, College of Veterinary Medicine; Department of Biomedical, Biological & Chemical Engineering, College of Engineering, University of Missouri, Columbia, MO, USA.
2 Department of Child Neurology, University Hospitals Leuven, Leuven, Belgium.
3 National Center of Neurology and Psychiatry, Tokyo, Japan.
4 Centro Clinico Nemo, Policlinico Gemelli, Rome, Italy.
5 Peadiatric Neurology, Catholic University, Rome, Italy.
6 Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. a.m.aartsma-rus@lumc.nl.

PMID: 33602943 DOI: 10.1038/s41572-021-00248-3

Abstract

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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