Duchenne muscular dystrophy

Chromosome Xp21 deletion syndrome [DS:H00552]
Dystrophinopathies [DS:H00562]

Duchenne muscular dystrophy (DMD) is a progressive, lethal X-linked neuromuscular disorder principally affecting males. It is caused by mutations in the DMD gene, which codes for dystrophin. Patients suffer from progressive muscle weakness, are wheelchair-bound before the age of 12 and often die before the third decade of their life.

Nervous system disease; Musculoskeletal disease

DMD [HSA:1756] [KO:K10366]

Deflazacort [DR:D03671]
Eteplirsen [DR:D09900] (DMD variant amenable to exon 51 skipping)
Golodirsen [DR:D11707] (DMD variant amenable to exon 53 skipping)
Viltolarsen [DR:D11528] (amenable to exon 53 skipping mutated)
Casimersen [DR:D11988] (DMD variant amenable to exon 45 skipping)

PMID:12668614

Aartsma-Rus A, Janson AA, Kaman WE, Bremmer-Bout M, den Dunnen JT, Baas F, van Ommen GJ, van Deutekom JC

Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients.

Hum Mol Genet 12:907-14 (2003)
DOI:10.1093/hmg/ddg100

PMID:23340516 (marker)

Moat SJ, Bradley DM, Salmon R, Clarke A, Hartley L

Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK).

Eur J Hum Genet 21:1049-53 (2013)
DOI:10.1038/ejhg.2012.301