distrofía

Distrofía refers to a group of genetic disorders characterized by progressive muscle weakness and degeneration. These conditions are primarily caused by mutations in genes responsible for muscle structure and function. The most common and well-known form is Duchenne muscular dystrophy (DMD), which typically affects young boys and leads to severe muscle loss, often resulting in wheelchair dependence by adolescence. Becker muscular dystrophy (BMD) is a milder, related condition with a slower progression of muscle weakness.

Other types of muscular dystrophy include myotonic dystrophy, which affects muscle contraction and relaxation, and limb-girdle muscular dystrophy, which primarily impacts the muscles of the shoulders, upper arms, hips, and thighs. Symptoms can vary widely depending on the specific type and severity of the dystrophy, but often include difficulty with mobility, balance issues, and fatigue. While there is currently no cure for most forms of muscular dystrophy, treatments focus on managing symptoms, improving quality of life, and slowing disease progression. These may involve physical therapy, occupational therapy, medications to manage complications, and supportive care. Research into gene therapy and other innovative treatments is ongoing.