Duchenne muscular dystrophy (DMD) is an x-linked recessive disorder, primarily characterized by progressive muscle weakness and wasting.

The disease results from the absence of dystrophin, however the precise molecular mechanisms leading to muscle pathology are poorly understood. The dystrophin complex has two functions: a structural role in maintaining sarcolemmal integrity during contraction and a scaffolding function that recruits signaling proteins such as neuronal nitric oxide synthase to the membrane.

Dystrophic muscles undergo increased oxidative stress and altered calcium homeostasis, which may contribute to myofiber loss by triggering both necrosis and apoptosis.

Etiology

 mutations of the DMD gene at Xp21.2

References

 van Deutekom JC, van Ommen GJ. Advances in Duchenne muscular dystrophy gene therapy. Nat Rev Genet. 2003 Oct;4(10):774-83. PMID: #14526374#

 Froehner SC. Just say NO to muscle degeneration? Trends Mol Med. 2002 Feb;8(2):51-3. PMID: #11815264#