Dystrophinopathy

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]

Dystrophinopathy
SpecialtyNeurology
DurationLong term
TypesDuchenne muscular dystrophy, Becker muscular dystrophy, DMD-associated dilated cardiomyopathy
CausesGenetic (inherited or new mutation)
Diagnostic methodGenetic testing

References
  1. 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 requires |journal= (help)
  2. Thangarajh, M (December 2019). "The Dystrophinopathies". Continuum (Minneapolis, Minn.). 25 (6): 1619–1639. doi:10.1212/CON.0000000000000791. PMID 31794463.
  3. 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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