Recent advance in clinical characteristics and gene therapy of spinal muscular atrophy
10.3760/cma.j.cn115354-20241122-00734
- VernacularTitle:脊髓性肌萎缩症的临床特征及基因治疗研究进展
- Author:
Han ZHANG
1
;
Zhixin WU
1
;
Xueping ZHU
1
Author Information
1. 苏州大学附属儿童医院新生儿科，苏州 433001
- Publication Type:Journal Article
- Keywords:
Spinal muscular atrophy;
Clinical characteristic;
Gene treatment;
CRISPR/Cas9 gene editing technology
- From:
Chinese Journal of Neuromedicine
2025;24(3):293-298
- CountryChina
- Language:Chinese
-
Abstract:
Spinal muscular atrophy (SMA), a hereditary neuromuscular disease, may lead to progressive muscle weakness and atrophy in the proximal limbs resulting from decreased survival motor neuron (SMN) protein expression caused by SMN1 gene mutation. Currently, drugs clinically used for SMA gene therapy include nusinersen, sofosbuvir, and risdiplam, whic have limited scopes of application. Some drugs need to be used for a long time, and none of them can achieve a complete cure. Intrathecal injection of supplemented SMN1 gene has entered clinical trials, showing good curative effect. At the same time, basic researches indicate that CRISPR/Cas9 gene editing technology shows good prospect in correcting the mutant genes in SMA. This article reviews the clinical characteristics of SMA and research progress of gene therapy, aiming to provide a new perspective for diagnosis and treatment of SMA.
