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Reference Materials

An Introduction to the Duchenne Muscular Dystrophy

key information

source: StatPearls Publishing LLC

year: 2019

authors: Venugopal V, Pavlakis S


Duchenne muscular dystrophy (DMD) one of the most severe forms of inherited muscular dystrophies. It is the most common hereditary neuromuscular disease and does not exhibit a predilection for any race or ethnic group. Mutations in the dystrophin gene lead to progressive muscle fiber degeneration and weakness. This weakness may present initially with difficulty in ambulation but progressively advances to such an extent that affected patients are unable to carry out activities of daily living and become wheelchair bound. Cardiac and orthopedic complications are common, and death usually occurs in the twenties due to respiratory muscle weakness or cardiomyopathy. Current therapy is centered on treatment with glucocorticoids and physiotherapy to prevent orthopedic complications.

organization: The Brooklyn Hospital Center, USA; Maimonides Medical Center, USA

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