Treatment of Duchenne Muscular Dystrophy: A Comprehensive
Review

J Korean Neurol Assoc > Volume 30(4); 2012 > Article

Journal of the Korean Neurological Association 2012;30(4): 257-266.

Duchenne 근디스트로피의 치료에 대한 고찰

박형준, 최영철

연세대학교 의과대학 신경과학교실

Treatment of Duchenne Muscular Dystrophy: A Comprehensive Review

Hyung Jun Park

Department of Neurology, Yonsei University College of Medicine, Seoul, Korea

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. Key Words: Cell therapy, Corticosteroids, Duchenne muscular dystrophy, Gene therapy