Duchenne muscular dystrophy

Abstract

Objective: To analyze the characteristics of Duchenne Muscular Dystrophy (DMD). Bibliographic review: DMD is the most common infantile muscular dystrophy worldwide, being an X-linked recessive disease, caused by mutations in the gene that encodes dystrophin, affecting 1 in 3,500 to 5,000 boys. Dystrophin is a large cytoskeletal protein that facilitates interactions between the cytoskeleton, cell membrane, and extracellular matrix. In DMD, dystrophin is absent, which causes excessive membrane fragility and permeability, dysregulation of calcium homeostasis and oxidative damage. Symptoms manifest during early childhood, progressively worsening with loss of ambulation, and, later, respiratory and cardiac failure. Final considerations: DMD is a neuromuscular disease in which there is severe muscle weakness and death occurs at approximately 30 years of age due to cardiorespiratory failure. Currently, there is no cure for the disease, and supportive measures are applied. Administration of glucocorticoids, such as prednisone and deflazacort, should be started immediately after diagnosis in order to preserve muscle function. In addition, non-invasive ventilation measures must be provided for patients who need it.