dystrophinopathy

Dystrophinopathy refers to a group of genetic muscle disorders caused by a deficiency of dystrophin, a protein essential for maintaining muscle cell integrity. Without enough dystrophin, muscle fibers become fragile and more easily damaged during movement, leading to progressive muscle weakness and loss of function. The most common form is Duchenne muscular dystrophy, which primarily affects boys and results in severe muscle deterioration over time. Symptoms often appear in early childhood and can include difficulty walking, muscle cramps, and heart or respiratory issues as the disease advances.