Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, 56126 Pisa, Italy.
Int J Mol Sci. 2023 Mar 5;24(5):5005. doi: 10.3390/ijms24055005.
Fatigue is a major determinant of quality of life and motor function in patients affected by several neuromuscular diseases, each of them characterized by a peculiar physiopathology and the involvement of numerous interplaying factors. This narrative review aims to provide an overview on the pathophysiology of fatigue at a biochemical and molecular level with regard to muscular dystrophies, metabolic myopathies, and primary mitochondrial disorders with a focus on mitochondrial myopathies and spinal muscular atrophy, which, although fulfilling the definition of rare diseases, as a group represent a representative ensemble of neuromuscular disorders that the neurologist may encounter in clinical practice. The current use of clinical and instrumental tools for fatigue assessment, and their significance, is discussed. A summary of therapeutic approaches to address fatigue, encompassing pharmacological treatment and physical exercise, is also overviewed.
疲劳是影响多种神经肌肉疾病患者生活质量和运动功能的主要决定因素，每种疾病都有其独特的病理生理学和众多相互作用因素的参与。本综述旨在从生化和分子水平上概述疲劳的病理生理学，涉及肌肉营养不良、代谢性肌病和原发性线粒体疾病，并重点介绍线粒体肌病和脊髓性肌萎缩症，尽管它们符合罕见病的定义，但作为一组，它们代表了神经肌肉疾病的一个有代表性的集合，神经科医生在临床实践中可能会遇到。讨论了目前用于疲劳评估的临床和仪器工具及其意义。还概述了治疗疲劳的方法，包括药物治疗和体育锻炼。
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