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杜氏肌营养不良症的神经功能障碍:综述

Neurological impairments in Duchenne muscular dystrophy: A comprehensive review.

作者信息

Zhang Xiao-Fang, Hu Wenguang, Hu Jie

机构信息

Department of Pediatric Neurology, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.

Department of Pediatric Orthopedics, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, No. 1617, Section 1, Riyue Avenue, Qingyang District, Chengdu, Sichuan Province, China.

出版信息

Acta Neurol Belg. 2025 Sep 4. doi: 10.1007/s13760-025-02880-2.

Abstract

Duchenne muscular dystrophy, the most prevalent form of muscular dystrophy, is characterized by neurological complications including cognitive impairment, neuropsychiatric disorders, and epilepsy. Neuroimaging investigations have demonstrated structural brain alterations, hemodynamic disturbances, and metabolic dysregulation in individuals with Duchenne muscular dystrophy. These neurological impairments are primarily attributed to cerebral dystrophin deficiency and subsequent downstream molecular/cellular abnormalities, including altered excitation-inhibition balance, blood-brain barrier disruption, calcium dysregulation, and neuroinflammation. Current therapeutic strategies focus on two main methods: (1) enhancing brain expression of truncated dystrophin; (2) addressing downstream consequences of dystrophin loss. This review synthesizes recent literature on the neurological manifestations of Duchenne muscular dystrophy, providing a theoretical framework to inform clinical management strategies.

摘要

杜兴氏肌营养不良症是最常见的肌营养不良症形式,其特征是存在包括认知障碍、神经精神疾病和癫痫在内的神经并发症。神经影像学研究已证实,患有杜兴氏肌营养不良症的个体存在脑结构改变、血流动力学紊乱和代谢失调。这些神经损伤主要归因于脑内肌营养不良蛋白缺乏以及随后的下游分子/细胞异常,包括兴奋-抑制平衡改变、血脑屏障破坏、钙调节异常和神经炎症。目前的治疗策略主要集中在两种方法上:(1)增强截短型肌营养不良蛋白的脑表达;(2)解决肌营养不良蛋白缺失的下游后果。本综述综合了关于杜兴氏肌营养不良症神经表现的最新文献,为临床管理策略提供了一个理论框架。

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