Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Nemo Sud Clinical Centre, University Hospital "G. Martino", Messina, Italy.
Neurol Sci. 2018 Nov;39(11):1837-1845. doi: 10.1007/s10072-018-3555-3. Epub 2018 Sep 14.
Duchenne muscular dystrophy (DMD) is a devastating, progressive neuromuscular disorder for which there is no cure. As the dystrophin gene is located on the X chromosome, DMD occurs predominately in males. DMD is caused by a lack of functional dystrophin protein resulting from mutations in the 2.2-Mb DMD gene, whichdisrupts the reading frame. Care considerations for DMD advocate a coordinated, multidisciplinary approach to the management of DMD in order to optimize management of the primary manifestations of DMD as well as any secondary complications that may arise.
This review provides an overview of the multidisciplinary clinical management of DMD with regard to the respiratory, cardiology, orthopedic, and nutritional needs of patients with DMD. Recent advances in novel disease-modifying treatments for DMD are also discussed with specific reference to exon skipping and suppression of premature stop codons as promising genetic therapies.
The combination of multidisciplinary clinical management alongside novel gene therapiesoffers physicians a powerful armamentarium for the treatment of DMD.
杜氏肌营养不良症（DMD）是一种进行性、毁灭性的神经肌肉疾病，目前尚无治愈方法。由于 dystrophin 基因位于 X 染色体上，因此 DMD 主要发生在男性中。DMD 是由于 2.2-Mb DMD 基因中的突变导致功能性肌营养不良蛋白缺失，从而破坏了阅读框而引起的。DMD 的护理考虑因素提倡采用协调的多学科方法来管理 DMD，以优化 DMD 的主要表现以及可能出现的任何继发性并发症的管理。
本综述概述了 DMD 的多学科临床管理，涉及 DMD 患者的呼吸、心脏、骨科和营养需求。还讨论了新型疾病修饰治疗 DMD 的最新进展，特别提到外显子跳跃和抑制过早终止密码子作为有前途的基因治疗方法。
多学科临床管理与新型基因治疗的结合为医生提供了治疗 DMD 的强大手段。
