Duchenne Muscular Dystrophy: Early Diagnosis and Genetic Testing Can Improve Management | DuchenneXchange

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Duchenne Muscular Dystrophy: Early Diagnosis and Genetic Testing Can Improve Management

key information

source: RareDR

year: 2015

summary/abstract:

Patients with Duchenne muscular dystrophy (DMD) have a mutation in the dystrophin gene, which affects their ability to produce full-length, functional dystrophin, a structural protein that connects the cytoskeleton of a muscle fiber to proteins embedded in the cell membrane which in turn are connected to the surrounding extracellular matrix.

DMD is reported to occur in approximately 1 in 3500 live male births. Because inheritance of DMD is X-linked recessive, the disease almost exclusively affects boys, who have inherited the disease from their mothers but up to 1/3 of cases may be due to spontaneous mutations. Girls can be carriers, with up to 10% of these patients exhibiting some symptoms, but with generally milder presentations.

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