dystrofii

Dystrophies are a group of genetic disorders characterized by progressive muscle weakness and wasting. These conditions are caused by mutations in genes that encode proteins essential for muscle function, particularly those involved in the dystrophin-glycoprotein complex (DGC). The DGC is a large protein complex that connects the muscle fiber cytoskeleton to the extracellular matrix, providing structural integrity and stability to muscle cells.

The most well-known dystrophy is Duchenne muscular dystrophy (DMD), which primarily affects boys and is caused by mutations in the dystrophin gene. DMD typically presents in early childhood with progressive muscle weakness and wasting, leading to difficulty walking, climbing stairs, and eventually becoming wheelchair-bound. Other forms of dystrophy include Becker muscular dystrophy (BMD), which is also caused by mutations in the dystrophin gene but has a milder course, and limb-girdle muscular dystrophy (LGMD), which can be caused by mutations in various genes.

Dystrophies are inherited in an X-linked recessive pattern, meaning that the gene mutation is located on the X chromosome and is passed from an affected mother to her sons. This pattern explains why DMD is more common in males, as they have only one X chromosome. Females with an X-linked recessive disorder typically have a milder phenotype or may be asymptomatic carriers.

Treatment for dystrophies focuses on managing symptoms, improving muscle function, and slowing disease progression. Physical therapy, medications, and, in some cases, gene therapy are used to manage symptoms and improve quality of life. Research is ongoing to develop more effective treatments and ultimately a cure for these devastating conditions.