Dystrophinopathy
Dystrophinopathy | |
---|---|
Specialty | Neurology |
Duration | Long term |
Types | Duchenne muscular dystrophy, Becker muscular dystrophy, DMD-associated dilated cardiomyopathy |
Causes | Genetic (inherited or new mutation) |
Diagnostic method | Genetic testing |
Dystrophinopathy refers to a spectrum of diseases due to mutations in the DMD gene, which encodes for the dystrophin protein found in muscle.[1][2][3] The severe end of the spectrum includes Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and DMD-associated dilated cardiomyopathy.[1][2][3] The mild end of the spectrum includes asymptomatic increases in serum creatine kinase and muscle cramps with myoglobinuria.[1][2][3] Because dystrophin is located on the X chromosome, dystrophinopathy mainly affects males, whereas females range from being carriers,[2] to having delayed-onset and mild disease,[3] to having severe DMD.[1]
References
- ^ a b c d Darras, BT; Urion, DK; Ghosh, PS; Adam, MP; Ardinger, HH; Pagon, RA; Wallace, SE; Bean, LJH; Stephens, K; Amemiya, A (1993). "Dystrophinopathies". PMID 20301298.
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(help) - ^ a b c d Thangarajh, M (December 2019). "The Dystrophinopathies". Continuum (Minneapolis, Minn.). 25 (6): 1619–1639. doi:10.1212/CON.0000000000000791. PMID 31794463. S2CID 208531731.
- ^ a b c d Beggs, AH (20 May 1997). "Dystrophinopathy, the expanding phenotype. Dystrophin abnormalities in X-linked dilated cardiomyopathy". Circulation. 95 (10): 2344–7. doi:10.1161/01.cir.95.10.2344. PMID 9170393.
- v
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- Congenital
- Dystrophinopathy
- Becker's
- Duchenne
- Distal
- Emery-Dreifuss
- Facioscapulohumeral
- Limb-girdle muscular dystrophy
- Myotonic
- Oculopharyngeal
- MDA Muscle Walk (US)
- Labor Day Telethon (defunct; US/Canada)
- Décrypthon (France)
- Grøn Koncert (Denmark)
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