About Duchenne Muscular Dystrophy (DMD)

I have had some inquiries as to whether Sean will be able to walk now that he has had surgery. I wish I could deliver happier news, but no. The curvatures of his spine were not the cause of his inability to walk. Rather, Duchenne Muscular Dystrophy (DMD) is the culprit.

DMD, a genetic disease that involves progressive degeneration of voluntary and cardiac muscles, results from any of a number of mutations in the gene for dystrophin, a protein that plays a key role in protecting muscle fibers from destruction when they contract. Dystrophin normally is located near the membrane that surrounds each fiber. Without it, these membranes are much more fragile. Almost no dystrophin is produced in the muscles of DMD patients.

DMD is a genetic disease that involves progressive degeneration of voluntary and cardiac muscles, with resulting weakness and heart abnormalities, beginning in early childhood. Delayed motor milestones are an early sign of DMD, and cognitive, behavioral or language abnormalities are seen in about a third of cases. Weakened cardiac and respiratory muscles severely limit life span.

The disease results from any of a number of mutations in the gene for dystrophin, a muscle and brain protein. Almost no dystrophin is produced in the muscles of children with DMD. The dystrophin gene is located on the X chromosome, and, like other X-linked genetic diseases, DMD affects males almost exclusively, although some girls are affected.