Duchenne muscular dystrophy overview
1 Juárez University of the State of Durango. Faculty of Medicine and Nutrition. Durango, Durango Mexico.
2 Juárez University of the State of Durango. Faculty of Medicine and Nutrition. Department of genetics of the Juarez University of the State of Durango. Faculty of Medicine and Nutrition. Durango, Durango Mexico.
Review Article
GSC Advanced Research and Reviews, 2023, 16(01), 111–115.
Article DOI: 10.30574/gscarr.2023.16.1.0238
Publication history:
Received on 05 May 2023; revised on 02 July 2023; accepted on 04 July 2023
Abstract:
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.
Keywords:
DMD; Dystrophin; Angiotensin II; Rehabilitation
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Copyright © 2023 Author(s) retain the copyright of this article. This article is published under the terms of the Creative Commons Attribution Liscense 4.0
