Duchenne Muscular Dystrophy (DMD)

Duchenne muscular dystrophy (DMD) is the progressive degeneration of muscles which is caused by the absence of dystrophin, a protein that is responsible for the preservation of muscle cells’ health. DMD was named after Guillaume Benjamin Amand Duchenne, a French neurologist who first described the disease in the 1860s.

This genetic disorder usually affects boys and manifests at the ages of three to five. The general symptom is muscle weakness which usually begins at the hips, pelvis, thighs, and shoulders; the condition later on progresses into the voluntary muscles in the limbs (with the calves enlarged) and trunk. By their teens, patients’ respiratory and heart muscles also degenerate. Recently, survival into the early 30s is getting more common with modern medical management. Eteplirsen and deflazacort are a couple of the medications being currently employed to treat DMD patients.