What is DMD
Center Scientists
Contact Us
support UCLA DMD Research Center
links for parents



What is Duchenne Muscular Dystrophy?

DMD one of themost common lethal genetic disease of childhood. It is the most common and most devastating of the muscular dystrophies, that affects all ethnicities, nationalities and socioeconomic groups, although it occurs almost exclusively in males. It is inherited as an x-linked disease that is characterized by a rapidly progressive muscle weakness. Children with DMD show early signs of muscle weakness and begin walking relatively late in childhood. They develop a waddling gait and have difficulty in climbing stairs. Their muscles show a false or pseudo-hypertrophy, most notably in the calf muscles, where the muscles appear large but are actually replaced by fat or fibrous tissue.

Becker muscular dystrophy (BMD) results from mutations in the same gene as DMD but follows a milder clinical course, with later development of weakness and loss of function.

DMD occurs in ~1:3500 male births world-wide and ~1:5000 in developed countries that provide genetic counseling. In ~70% of the cases, the mother of the affected child is a carrier of the disease. In the remaining 30% of cases, the disease results from a new mutation. If the mother is a carrier, there is a 50% chance for each of her male children to have DMD, and a 50% chance for each female offspring to be a carrier.

Genetic counseling is recommended if there is a family history of DMD. Mutations in the gene that cause DMD can be detected with approximately 95% accuracy in prenatal testing.