For Healthcare Providers
Care for people living with Duchenne includes a multidisciplinary team of professionals providing coordinated, comprehensive care. While the Duchenne Care Considerations offer details of the surveillance and management of each medical subspecialty area of care, PPMD has additional tools and resources that may be helpful to you. Please let us know if there are tools and/or resources that you do not see, that you feel might be helpful.
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, and pulmonary muscles. It affects approximately 1 out of every 5,000 live male births. About 20,000 children are diagnosed with Duchenne globally each year.
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.
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”.
PPMD’s mission and work extends to all of the dystrophinopathies (both Duchenne and Becker), but for simplicity we primarily refer to Duchenne.
The Duchenne Timeline video is a brief, 4 minute video depicting the natural progression of the progressive symptomatology of this diagnosis. This video might be useful in the description of this diagnosis to medical professionals new to this area of care.