Spinal Muscular Atrophy: History, Current Status and Future
10.12376/j.issn.2097-0501.2022.01.005
- VernacularTitle:脊髓性肌萎缩症的昨天、今天与明天
- Author:
Yi DAI
1
;
Liying CUI
1
Author Information
1. Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
- Publication Type:Journal Article
- Keywords:
spinal muscular atrophy(SMA);
disease modifying therapy;
gene therapy;
genetic testing;
carrier screening
- From:
JOURNAL OF RARE DISEASES
2022;1(1):28-33
- CountryChina
- Language:Chinese
-
Abstract:
It has been a hundred years since the first case of spinal muscular atrophy(SMA) was reported in the medical literature. In its 100 years of history, medical development for the cure of SMA has gone through many stages, from clinical manifestation description, accumulation of cases, disease classification exploration to pathogenic gene mapping and cloning, clinical application of gene diagnosis, animal model establishment then to R&D of disease modifying drugs and clinical use of novel therapies. The future of the development lies in breakthrough in pathophysiological mechanism, carrier screening and precise prevention, as well as new therapies. As a representative of monogenic rare diseases, review the history of the progress in diagnosis and treatment and R&D in medications and discuss the prospect of further development in the future is instrumental in leading the continued advancement of the whole cause of rare disease.
