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Dystrophinopathy
Specialty Neurology
DurationLong term
Types Duchenne muscular dystrophy, Becker muscular dystrophy, DMD-associated dilated cardiomyopathy
CausesGenetic (inherited or new mutation)
Diagnostic methodGenetic 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

  1. ^ 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. {{ cite journal}}: Cite journal requires |journal= ( help)
  2. ^ 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.
  3. ^ 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.
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