dystrophinopathies

Dystrophinopathies are genetic disorders caused by mutations in the dystrophin gene, which is essential for maintaining muscle cell integrity. Without functional dystrophin protein, muscle fibers become fragile and easily damaged during regular activity. This leads to progressive muscle weakness, primarily affecting the muscles used for movement, and can also impact the heart and respiratory muscles. The most common forms are Duchenne and Becker muscular dystrophy, with Duchenne being more severe and appearing earlier in life. These conditions are inherited in an X-linked pattern, primarily affecting males, though females can be carriers. Advances are ongoing in research aiming to improve management and develop potential therapies.