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脊髓性肌萎缩症的管理:生物学及治疗策略概述

Managing Spinal Muscular Atrophy: A Look at the Biology and Treatment Strategies.

作者信息

Vezzoli Arianna, Bottai Daniele, Adami Raffaella

机构信息

Department of Pharmacological Science, University of Milan, Via G. Balzaretti 9, 20133 Milan, Italy.

出版信息

Biology (Basel). 2025 Aug 1;14(8):977. doi: 10.3390/biology14080977.

Abstract

Since its discovery in the late 19th century, spinal muscular atrophy (SMA) has had a significant medical and societal impact, primarily affecting newborns, toddlers, and young adults. While new pharmaceutical strategies are effective in treating SMA in a particular subset of patients, continued research is necessary to improve the well-being of patients. Treatments are needed for those who do not respond to newly approved drugs and older patients with significantly compromised neuron systems. After summarizing SMA genotypes, phenotypes, and approved pharmacological treatments, this review presents ongoing trials for approved and new molecules, new formulations, and administration methods. Based on the work of our lab, we also discuss nutritional interventions that aim to counteract the oxidative stress present in SMA cells. Finally, we assess rehabilitative interventions, focusing on psychological approaches.

摘要

自19世纪末被发现以来,脊髓性肌萎缩症(SMA)对医学和社会产生了重大影响,主要影响新生儿、幼儿和年轻人。虽然新的药物策略在治疗特定患者亚组的SMA方面有效,但仍需持续研究以改善患者的健康状况。对于那些对新批准药物无反应的患者以及神经元系统严重受损的老年患者,需要进行治疗。在总结SMA的基因型、表型和已批准的药物治疗后,本综述介绍了针对已批准和新分子、新剂型及给药方法的正在进行的试验。基于我们实验室的工作,我们还讨论了旨在对抗SMA细胞中氧化应激的营养干预措施。最后,我们评估康复干预措施,重点关注心理方法。

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