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Pathophysiology and Management of Fatigue in Neuromuscular Diseases

2023; Multidisciplinary Digital Publishing Institute; Volume: 24; Issue: 5 Linguagem: Inglês

10.3390/ijms24055005

1661-6596

Francesca Torri, Piervito Lopriore, Vincenzo Montano, Gabriele Siciliano, Michelangelo Mancuso, Giulia Ricci,

Metabolism and Genetic Disorders

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.