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  • Updated 02.06.2022
  • Released 03.21.1994
  • Expires For CME 02.06.2025

Duchenne muscular dystrophy

Introduction

Overview

Duchenne muscular dystrophy (DMD) is a genetic neuromuscular disorder that affects approximately 1 in 5000 males (82; 30). The author outlines the clinical presentation and advances in the molecular pathogenesis and treatment of Duchenne muscular dystrophy. Proactive management with corticosteroids and early recognition of cardiac and respiratory pathophysiology has had a significant impact on improving the outcome of patients with Duchenne muscular dystrophy. Additionally, new exon-skipping treatments are showing promise in patients with certain DMD gene mutations and gene therapy preliminary results are very encouraging.

Key points

• Duchenne muscular dystrophy is a multisystem progressive genetic disease that primarily causes skeletal and cardiac muscle degeneration.

• Dystrophin, a subsarcolemmal protein, is responsible for the severe pathology of muscle cells, and most therapeutic efforts are directed to provide this protein for the muscle tissue.

• Survival is currently prolonged with corticosteroid use, ventilatory support, and multidisciplinary care.

• There are currently 4 FDA approved exon skipping drugs targeting a subgroup of patients with mutations amenable to skipping of either exon 51, 53, or 45, and gene replacement phase 3 clinical trials are ongoing.

Historical note and terminology

Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy and one of the most common lethal genetic diseases. Studies published between 1850 and 1890 defined the course of the disorder in boys (86; 35; 41). The biochemical and genetic basis of Duchenne muscular dystrophy was elucidated in 1986 and 1987 in a series of studies that is considered a major early triumph of human molecular genetics (88; 50; 51; 67). Becker muscular dystrophy (BMD) refers to a milder phenotype that is allelic to the same gene that causes Duchenne muscular dystrophy.

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