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]