Treatment of Duchenne Muscular Dystrophy: A Comprehensive Review.
- Author:
Hyung Jun PARK
1
;
Young Chul CHOI
Author Information
1. Department of Neurology, Yonsei University College of Medicine, Seoul, Korea. ycchoi@yuhs.ac
- Publication Type:Review ; Clinical Trial
- Keywords:
Cell therapy;
Corticosteroids;
Duchenne muscular dystrophy;
Gene therapy
- MeSH:
Adolescent;
Adrenal Cortex Hormones;
Dystrophin;
Exons;
Genetic Therapy;
Humans;
Muscle Weakness;
Muscles;
Muscular Dystrophy, Duchenne;
Noninvasive Ventilation;
Nutritional Support;
Orthopedics;
Quality of Life;
Respiratory Insufficiency;
Tissue Therapy
- From:Journal of the Korean Neurological Association
2012;30(4):257-266
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder due to the loss of dystrophin in muscle fiber. The deficiency of dystrophin produces severe progressive muscle degeneration which leads to progressive muscle weakness. Affected patients usually become unambulatory in their early teens, and suffer a respiratory failure before 20 years of age. In an attempt to improve quality of life and extend life span of DMD patients, various treatments have been challenged; corticosteroid trial, rehabilitation, cardiac and pulmonary managements, orthopedic interventions, and nutritional support. However, only corticosteroid therapy and non-invasive ventilation have shown a salutary effect on the clinical course of DMD. Recently, a better understanding of the DMD pathophysiology has provided the scientific basis for new treatment modalities including cell and molecular therapy. Although previous clinical trials have demonstrated the limitation and possibility of new therapies, antisense-mediated exon skipping technology is now emerging as a promising approach to restore dystrophin expression. This article summarizes the current challenges and recommendations of treatment approaches in DMD patients.
