About Duchenne & Becker Muscular Dystrophy
Duchenne muscular dystrophy is a genetic disorder characterized by the progressive loss of muscle. It is a multi-systemic condition, affecting many parts of the body, which results in deterioration of the skeletal, cardiac (heart), and pulmonary (lung) muscles.
Duchenne affects approximately 1 out of every 5,000 live male births. About 20,000 children are diagnosed with Duchenne globally each year.
Because the Duchenne gene is found on the X-chromosome, it primarily affects males, while females are typically carriers. However, some females can manifest varying ranges of physical symptoms of Duchenne and are therefore called manifesting carriers.
Duchenne is a dystrophinopathy, and is one of two diagnoses (Duchenne and Becker muscular dystrophy) that is caused by a mutation in the gene that encodes for a protein called dystrophin. Without dystrophin, muscles are not able to function or repair themselves properly. Becker muscular dystrophy, which is less severe than Duchenne, occurs when dystrophin is manufactured, but not in the normal form or amount.
PPMD’s mission and work extends to all of the dystrophinopathies (both Duchenne and Becker), but for simplicity we primarily refer to Duchenne.