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
[edit]- ^ a b c d Darras, Basil T; Urion, David K; Ghosh, Partha S (2022-01-20). "Dystrophinopathies". University of Washington, Seattle. PMID 20301298. Retrieved 2024-08-06.
- ^ 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.
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