Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brazil.
Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Neurologia, Campinas SP, Brazil.
Arq Neuropsiquiatr. 2024 Jun;82(6):1-10. doi: 10.1055/s-0043-1777755. Epub 2024 Feb 7.
Neuromuscular diseases (NMD) include a broad group of medical conditions with both acquired and genetic causes. In recent years, important advances have been made in the treatment of genetically caused NMD, and most of these advances are due to the implementation of therapies aimed at gene regulation. Among these therapies, gene replacement, small interfering RNA (siRNA), and antisense antinucleotides are the most promising approaches. More importantly, some of these therapies have already gained regulatory approval or are in the final stages of approval. The review focuses on motor neuron diseases, neuropathies, and Duchenne muscular dystrophy, summarizing the most recent developments in gene-based therapies for these conditions.
神经肌肉疾病(NMD)包括一组广泛的具有获得性和遗传性原因的医学病症。近年来,遗传性 NMD 的治疗取得了重要进展,而这些进展大多归因于针对基因调控的治疗方法的实施。在这些治疗方法中,基因替代、小干扰 RNA(siRNA)和反义抗核苷酸是最有前途的方法。更重要的是,其中一些治疗方法已经获得监管批准,或处于批准的最后阶段。本文综述主要集中在运动神经元疾病、神经病变和杜氏肌营养不良症,总结了针对这些疾病的基于基因的治疗方法的最新进展。