DUCHENNE MUSCULAR DYSTROPHY: A COMPREHENSIVE ANALYSIS OF DIAGNOSTIC ADVANCES, THERAPEUTIC APPROACHES, AND CONTEMPORARY CHALLENGES

Abstract

Duchenne Muscular Dystrophy (DMD) is a progressive and debilitating genetic disorder that primarily affects boys, characterized by rapid and irreversible muscle degeneration. Caused by mutations in the DMD gene located on the X chromosome, the disease prevents the production of dystrophin, a crucial protein for the stability and integrity of muscle cell membranes. The absence or deficiency of dystrophin results in progressive muscle weakness, beginning with the muscles of the legs and hips, leading to a gradual loss of the ability to walk, usually around age 12. Secondary complications include respiratory insufficiency and cardiomyopathy, which contribute to reduced life expectancy. Early diagnosis is vital and is achieved through clinical, laboratory, and genetic tests, with emphasis on creatine kinase (CK) levels and tests to identify mutations in the DMD gene. The treatment of DMD has evolved with the use of corticosteroids to slow disease progression, as well as the development of new therapies such as gene therapy and genetic editing techniques, offering new hope. However, challenges persist, such as the need for equitable access to advanced treatments and ongoing research to find more effective therapies.