Entry |
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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.
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Category |
Nervous system disease; Musculoskeletal disease
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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
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Network |
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Element |
N00465 | Deleted DMD to dystrophin-associated protein complex |
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Gene |
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Drug |
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)
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Other DBs |
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Reference |
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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 |
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Reference |
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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 |
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LinkDB |
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