Duchenne Muscular Dystrophy

Abstract

Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy and is caused by mutations in the dystrophin gene. Dystrophin, together with several other protein components, is part of a complex known as the dystrophin–glycoprotein complex (DGC). The DGC plays an essential role in maintaining the structural integrity of the muscle cell membrane by providing a link between the extracellular matrix and the cytoskeleton. The absence of functional dystrophin and the consequent loss of the DGC ultimately lead to chronic muscle damage resulting in progressive muscle weakness seen in DMD patients. There are currently no long-term effective treatments available, and DMD patients usually die from respiratory or cardiac muscle failure in their 20s. Animal models of the disease, including the mdx mouse and cxmd canine model, have been developed to aid in the understanding of the disease mechanism and to test the effectiveness of potential treatments. Clinical trials of several promising experimental strategies, including gene therapy, exon-skipping therapy, and cell-based therapy, are currently under way.