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Duchenne Muscular Dystrophy

Duchenne muscular dystrophy is the most common limb girdle muscular dystrophy. The gene that is mutated in Duchenne muscular dystrophy,ÌýDMD,Ìýencodes dystrophin.ÌýDMDÌýis encoded in the DNA of the X chromosome. The X chromosome is one of two sex chromosomes, X and Y. Males, who have one X chromosome, are much more likely to develop Duchenne muscular dystrophy; while females are usuallyÌýcarriersÌýof theÌýDMDÌýmutation in families with Duchenne muscular dystrophy, and may have no clinical phenotype.Ìý

Boys with Duchenne muscular dystrophy typically have onset of disease in childhood and progressive symptoms of skeletal muscle weakness through the teenage years and early adulthood. Patients become wheelchair bound and develop respiratory muscle weakness. As dystrophin is also important for heart muscle function, the heart can become weakened and develop arrhythmiasÌýdue to the dystrophin mutation.

Treatment of Duchenne muscular dystrophy

Treatment with medications used for dilated cardiomyopathyÌýand heart failureÌýcan prevent worsening of heart muscle dysfunction and reduce heart-related symptoms.

Learn moreÌýabout duchenne muscular dystrophy.