About Duchenne Muscular Dystrophy

Duchenne muscular dystrophy is a devastating muscle disease in children, primarily boys with no curative therapy available. It is the most common and severe form of muscular dystrophy caused by mutations of the dystrophin protein gene on the X chromosome. This mutation disables the production of dystrophin which results in progressive muscle weakness and leads to life-threatening and ultimately fatal medical issues.

 

Dystrophin is the largest gene encoded by the X chromosome:

  • ~2.6 million bases
  • 79 exons > 3,500 amino acids
  • >3,000 human mutations

Dystrophin beneath the muscle membrane acts as a “shock absorber”

Duchenne is the most common fatal genetic disorder in children, affecting approximately 1 in every 5,000 live male births. There are an estimated 15,000 Duchenne boys in the U.S. and an estimated 300,000 worldwide.

Boys with Duchenne typically lose their ability to walk by age 12 and many don’t survive beyond their mid-late 20s. Current treatment options only address effects of the disease and provide some delay in the disease progression. The Duchenne community needs novel and diverse approaches to treat or cure this devastating disease.