Duchenne muscular dystrophy overview

This literature review addresses Duchenne muscular dystrophy (DMD), a serious muscle disease related to the X chromosome. DMD causes progressive loss of walking ability and dependence on wheelchairs in adolescence. Patients' quality of life and survival have been improved through the use of corticosteroids and a multidisciplinary approach to orthopaedic management. DMD is caused by partial or total absence of dystrophin protein due to specific mutations in the DMD gene (Xp21. 2 locus). The disease is characterized by progressive muscle weakness, deformities in the musculoskeletal system, problems in the nutrition of the person and digestive problems, also presents a decrease in bone density. Diagnosis is based on clinical evidence, elevated levels of creatine phosphokinase in the blood and electromyography, and its confirmation is made with muscle biopsy. Early diagnosis is recommended to initiate proper management and carry out treatment. Treatment focuses on preserving muscle strength, preventing spinal deformities, managing respiratory and cardiac complications, and improving quality of life. In some studies, the use of angiotensin-converting enzyme inhibitors and angiotensin II receptor antagonists has been shown to be beneficial for long-term cardiovascular management resulting from DMD. In conclusion, a multidisciplinary approach is required to counteract clinical outcomes and improve the quality of life of patients with DMD.