Advances in the treatment of spinal muscular atrophy
10.3760/cma.j.issn.1673-4408.2024.02.012
- VernacularTitle:脊髓性肌萎缩症治疗研究进展
- Author:
Wenchen HUANG
1
;
Yujin QU
Author Information
1. 首都儿科研究所遗传室，北京 100020
- Keywords:
Spinal muscular atrophy;
Therapeutic drugs;
Combination therapy
- From:
International Journal of Pediatrics
2024;51(2):119-123
- CountryChina
- Language:Chinese
-
Abstract:
Spinal muscular atrophy（SMA），an autosomal recessive genetic disease characterized by progressive weakness and atrophy of the proximal limbs caused by degeneration of motor neurons in the anterior horn of the spinal cord，can affect multiple systems such as respiratory，digestive，and skeletal systems. Untreated children with severe type 1 SMA usually die within 2 years of age. In recent years，the treatment of SMA has developed rapidly，and a variety of drugs have been approved to benefit patients. However，none of the existing therapeutic drugs or regimens can achieve a complete cure. Therefore，the combination of different therapeutic drugs and the research and development of new drugs may be the way forward for the treatment of SMA. The latest progress of therapeutic drugs and combination therapy in SMA are summarized in this review，which may be helpful for guiding the treatment of SMA.
