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] This genetic disorder article is a stub.