Dystrofisia

Dystrofisia is a term used to describe a group of genetic disorders that cause progressive muscle weakness and loss. The most common and well-known form is Duchenne muscular dystrophy (DMD), which primarily affects boys. Other types include Becker muscular dystrophy (BMD), limb-girdle muscular dystrophy, and facioscapulohumeral muscular dystrophy (FSHD).

These conditions arise from mutations in genes responsible for producing proteins crucial for muscle structure and function. In DMD and BMD, the affected gene is typically the dystrophin gene, leading to a lack of or defective dystrophin protein. This protein acts as a shock absorber, protecting muscle fibers from damage during contraction. Without it, muscle cells become increasingly damaged and eventually die.

Symptoms vary depending on the specific type and severity of dystrofia, but generally include muscle weakness, difficulty with motor skills like walking or running, and in some cases, cardiac or respiratory problems. The onset and progression of symptoms can also differ significantly. While there is currently no cure for most dystrofias, treatments focus on managing symptoms, slowing disease progression, and improving quality of life. These may include physical therapy, occupational therapy, medication to manage complications, and supportive devices. Research into gene therapy and other innovative treatments is ongoing.