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[脊髓性肌萎缩症治疗的最新进展]

[Update on spinal muscular atrophy treatment].

作者信息

Erazo Torricelli Ricardo

机构信息

Unidad Neuromuscular, Hospital Luis Calvo Mackenna, Providencia, Santiago de Chile, Chile. E-mail:

出版信息

Medicina (B Aires). 2022 Aug 30;82 Suppl 3:76-81.

Abstract

Spinal muscular atrophy (SMA) has been known as a clinical entity for 130 yearsis still recognized today as the most severe autosomal recessive neuromuscular disease (5q,13,2) in pediatrics. Until 2015, SMA treatment was limited to ventilatory, nutritional, and physical therapy support. Currently, the existence of genetic treatments: gene modification by inclusion of exon 7 to the SMN2 gene (nusinersen and risdiplam) or insertion of the SMN1 gene through the adeno-associated viral transporter (onasemnogene) have radically modified the clinical evolution of children with SMA,especially if they are treated early. This review details the effects of the 3 treatments currently in use worldwide.

摘要

脊髓性肌萎缩症(SMA)作为一种临床病症已为人所知达130年之久,如今它仍被公认为儿科领域最严重的常染色体隐性神经肌肉疾病(5q,13,2)。直到2015年,SMA的治疗还仅限于通气、营养和物理治疗支持。目前,基因治疗的出现:通过将外显子7纳入SMN2基因进行基因修饰(nusinersen和risdiplam),或通过腺相关病毒转运体插入SMN1基因(onasemnogene),已从根本上改变了SMA患儿的临床病程,尤其是在早期接受治疗的情况下。本综述详细介绍了目前在全球范围内使用的这三种治疗方法的效果。

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