DMD gene testing
Duchenne muscular dystrophy.
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder characterized initially by proximal muscle weakness beginning before age 5 years. DMD is caused by mutations in the DMD gene, which encodes for dystrophin. Approximately 50% to 65% of patients have intragenic deletions and approximately 5% to 10% have intragenic duplications. Less frequently, DMD results from nondeletion and nonduplication mutations.