What Is Duchenne Muscular Dystrophy?
Duchenne muscular dystrophy, or DMD, is a rare genetic muscle disease that usually begins in early childhood. It is caused by variants in the DMD gene, which carries instructions for dystrophin, a protein that helps protect muscle fibers during movement. Without enough functional dystrophin, muscles are damaged over time, including skeletal muscle and eventually the heart and breathing muscles.
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Plain-English explanation
Duchenne muscular dystrophy, or DMD, is a rare genetic muscle disease that usually begins in early childhood. It is caused by variants in the DMD gene, which carries instructions for dystrophin, a protein that helps protect muscle fibers during movement. Without enough functional dystrophin, muscles are damaged over time, including skeletal muscle and eventually the heart and breathing muscles.
Why it matters
DMD is one of the clearest examples of both the promise and difficulty of genetic medicine. There are approved exon-skipping therapies for some mutations and approved gene therapy approaches for some patients, but questions remain about benefit, eligibility, safety, durability, and access. Families need clear explanations because treatment decisions can be urgent and complex.
How it works
Diagnosis usually involves genetic testing and clinical evaluation. Therapies may include steroids, cardiac and respiratory care, physical therapy, exon-skipping drugs for specific mutations, and gene therapy for eligible patients. Exon skipping tries to produce a shorter dystrophin protein; gene therapy generally delivers a micro-dystrophin because the full DMD gene is too large for common AAV vectors.