杜氏肌营养不良的发病机制与治疗决策的研究进展

叶亦致; 吴丽文

doi:10.7499/j.issn.1008-8830.2503105

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中国当代儿科杂志 ›› 2025, Vol. 27 ›› Issue (9) : 1143-1148. DOI: 10.7499/j.issn.1008-8830.2503105

综述

杜氏肌营养不良的发病机制与治疗决策的研究进展

叶亦致 ¹ (综述) ,
吴丽文 ² (审校)

作者信息 +

Research progress on the pathogenesis and treatment strategies of Duchenne muscular dystrophy

Yi-Zhi YE ¹ ,
Li-Wen WU ²

Author information +

文章历史 +

摘要

杜氏肌营养不良（Duchenne muscular dystrophy, DMD）是一组以支配运动的肌肉变性、坏死为主要病理特征的X连锁隐性遗传性神经肌肉疾病，主要由Dystrophin基因变异导致，患者通常在儿童期出现进行性肌肉无力和肌萎缩。目前，针对DMD的治疗手段有限且疗效不佳。该文旨在对DMD的最新治疗进展进行系统综述，分析不同治疗方法的机制、临床试验结果及其潜在的临床应用价值，为临床决策提供指导。

Abstract

Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disorder characterized primarily by progressive degeneration and necrosis of skeletal muscle, resulting from mutations in the Dystrophin gene. Patients with DMD typically present with progressive muscle weakness and atrophy during childhood. Currently, available treatment options for DMD remain limited and their efficacy is suboptimal. This review aims to provide a systematic overview of recent advances in therapeutic strategies for DMD, including an analysis of the mechanisms underlying various treatment approaches, outcomes from clinical trials, and their potential clinical applications, in order to inform and guide clinical decision-making.

导出引用

叶亦致, 吴丽文. 杜氏肌营养不良的发病机制与治疗决策的研究进展[J]. 中国当代儿科杂志. 2025, 27(9): 1143-1148 https://doi.org/10.7499/j.issn.1008-8830.2503105

Yi-Zhi YE, Li-Wen WU. Research progress on the pathogenesis and treatment strategies of Duchenne muscular dystrophy[J]. Chinese Journal of Contemporary Pediatrics. 2025, 27(9): 1143-1148 https://doi.org/10.7499/j.issn.1008-8830.2503105

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