Duchenne Muscular Dystrophy

multidisciplinary Approach and Advances in Genetic Therapies and Clinical Management

Abstract

Duchenne Muscular Dystrophy (DMD) is a severe genetic myopathy caused by mutations in the DMD gene, leading to the absence of functional dystrophin, a protein essential for sarcolemma stability. This study reviews the etiological, pathophysiological, and clinical aspects of DMD, emphasizing its X-linked recessive inheritance pattern and associated familial risks. Clinical progression is characterized by progressive muscle degeneration, cardiorespiratory complications, and high morbidity and mortality. Therapeutic strategies, including corticosteroids, respiratory support, and gene therapies, are explored, offering promising prospects for delaying disease progression. The psychological impact and the importance of multidisciplinary care involving neurologists, cardiologists, and physiotherapists are highlighted as cornerstones of management. This work synthesizes scientific and clinical advances, contributing to a more effective and humanized approach to DMD treatment.