摘要：

Duchenne 型肌营养不良症是最常见的X 连锁隐性遗传性疾病，DMD 基因突变导致抗肌萎缩蛋白缺失，不仅引起肌肉运动障碍，而且引起脊柱侧弯、认知功能障碍，以及泌尿系统疾病、呼吸系统疾病和心脏病等多系统疾病，患者最终于成年早期死于呼吸和循环衰竭。早期多学科综合治疗可以延缓疾病进程、提高患者生活质量，然而目前对该病的诊断与治疗存在明显延迟。本文拟从运动功能、认知功能、呼吸功能、心脏功能等方面综述Duchenne 型肌营养不良症的自然病程，有助于临床医护人员对该病早期识别、早期诊断、早期治疗，使患者得到最大获益。

关键词: 肌营养不良, 杜氏, 肌营养不良蛋白, 综述

Abstract:

Duchenne muscular dystrophy (DMD) is X-linked recessive hereditary disease. DMD gene mutations result in dystrophin deficiency, which causes not only muscle movement disorders but also scoliosis, cognitive dysfunction, urinary tract diseases, respiratory diseases and heart diseases. Most patients die in early adult for respiratory and circulatory failure. Early multidisciplinary therapies will significantly delay disease progression and improve patients' quality of life. However, DMD diagnosis and treatment exist significantly time delay now. In this study, we review the natural history of DMD, including motor, cognitive, respiratory and heart function, for improving DMD early recognition, diagnosis and treatment, so as to benefit DMD patients.

Key words: Muscular dystrophy, Duchenne, Dystrophin, Review