KEGG   DISEASE: Duchenne muscular dystrophy
Entry
H01963                      Disease                                

Name
Duchenne muscular dystrophy
  Supergrp
Chromosome Xp21 deletion syndrome [DS:H00552]
Dystrophinopathies [DS:H00562]
Description
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.
Category
Nervous system disease; Musculoskeletal disease
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Muscular diseases
   H01963  Duchenne muscular dystrophy
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C70  Muscular dystrophy
     H01963  Duchenne muscular dystrophy
Network
  Element
N00465  Deleted DMD to dystrophin-associated protein complex
Gene
DMD [HSA:1756] [KO:K10366]
Drug
Deflazacort [DR:D03671]
Eteplirsen [DR:D09900] (DMD variant amenable to exon 51 skipping)
Golodirsen [DR:D11707] (DMD variant amenable to exon 53 skipping)
Other DBs
ICD-11: 8C70.1
ICD-10: G71.0
MeSH: D020388
OMIM: 310200
Reference
  Authors
Aartsma-Rus A, Janson AA, Kaman WE, Bremmer-Bout M, den Dunnen JT, Baas F, van Ommen GJ, van Deutekom JC
  Title
Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients.
  Journal
Hum Mol Genet 12:907-14 (2003)
DOI:10.1093/hmg/ddg100
Reference
PMID:23340516 (marker)
  Authors
Moat SJ, Bradley DM, Salmon R, Clarke A, Hartley L
  Title
Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK).
  Journal
Eur J Hum Genet 21:1049-53 (2013)
DOI:10.1038/ejhg.2012.301
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