| Dystrophinopathy | |
| Field: | Neurology |
| Duration: | Long term |
| Types: | Duchenne muscular dystrophy, Becker muscular dystrophy, DMD-associated dilated cardiomyopathy |
| Causes: | Genetic (inherited or new mutation) |
| Diagnosis: | 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. The mild end of the spectrum includes asymptomatic increases in serum creatine kinase and muscle cramps with myoglobinuria. Because dystrophin is located on the X chromosome, dystrophinopathy mainly affects males, whereas females range from being carriers, to having delayed-onset and mild disease, to having severe DMD.