Abstract:

Duchenne muscular dystrophy (DMD) is an X-linked, severe genetic muscular disorder caused by the deficiency of DMD gene. There is still no curative therapy for the disease, but improving survival and life quality of the patients have been achieved due to multidisciplinary interventions. The therapies available for clinical treatment include drug therapies [glucocorticoids, angiotensin converting enzyme inhibitor (ACEI), idebenone, albuterol], management of respiratory system, expecially the use of non-invasive ventilator, rehabilitation therapy focusing on hydrotherapy and prevention of joint contracture, nutritional management, and so on. Advancing therapeutic strategies including gene therapies (exon skipping, nonsense mutation readthrough therapy and adeno-associated virus (AAV) mediated micro/mini-dystrophin therapy), myostatin and compensatory upregulation of utrophin, and gene editing have made great progress in preclinical study and some of them like exon skipping therapy of exon 51 and nonsense mutation readthrough therapy have been studied in a few clinical trials and made some achievements.

Key words: Muscular dystrophy, Duchenne, Review

摘要：

Duchenne 型肌营养不良症是定位于X 染色体的DMD 基因缺陷导致的严重遗传性肌肉病。目前尚无治愈方法，但在多种综合治疗干预下，患者生存期延长、生活质量提高。临床治疗方法包括药物治疗（糖皮质激素、血管紧张素转换酶抑制剂、艾地苯醌、沙丁胺醇）、呼吸系统支持尤其是无创性呼吸机的应用、以水疗法和抗关节挛缩为主的康复治疗、营养管理等。基因治疗（外显子跳跃、无义突变通读、腺相关病毒介导的微小抗肌萎缩蛋白基因替代治疗）、抑制肌肉生长抑制素、上调肌营养相关蛋白和基因编辑治疗等新兴治疗方法也在蓬勃发展，外显子51 跳跃治疗和无义突变通读治疗在临床试验中取得一定成果。本文拟对近年来Duchenne 型肌营养不良症传统综合治疗和新兴治疗的临床试验和动物实验研究进展和应用前景进行概述。

关键词: 肌营养不良, 杜氏, 综述