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Book

Duchenne Muscular Dystrophy

Vijay Venugopal  1 , Steven Pavlakis  2
In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.
.
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Book

Duchenne Muscular Dystrophy

Vijay Venugopal et al.
Free Books & Documents

Excerpt

Duchenne muscular dystrophy (DMD) is 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 must use wheelchairs. 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.

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Conflict of interest statement

Disclosure: Vijay Venugopal declares no relevant financial relationships with ineligible companies.

Disclosure: Steven Pavlakis declares no relevant financial relationships with ineligible companies.

References

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