What is Duchenne?

Historically, most boys who have it do not survive beyond their late twenties, and those that do will be using a wheelchair by age 12 and experience social isolation. The simplest of tasks become difficult, and in the later stages, heart and breathing muscles begin to fail. Nearly 15,000 boys are living with the disease in the United States alone and over 300,000 worldwide. The disorder knows no cultural, economic, or social boundaries.

Muscular dystrophies are a group of genetic disorders characterized by muscle weakness. Duchenne is the most common and severe form, caused by loss of dystrophin, beneath the sarcolemma. The molecular mechanisms of the disease have been extensively investigated since the discovery of the gene in 1986.

Initial signs of cardiac dysfunction caused by Duchenne muscular dystrophy are usually detected during adolescence. However, decreased physical activity, even if wheelchair-bound, can allow better tolerance of decreased cardiac function.

The good news is that new gene-based therapies have recently emerged with noted advances in using conventional gene replacement strategies, RNA-based technology, and pharmacological approaches. In particular, antisense-mediated exon skipping has shown encouraging results and holds promise for the treatment of dystrophic muscle.