脊髓性肌萎缩症的昨天、今天与明天

戴毅; 崔丽英

doi:10.12376/j.issn.2097-0501.2022.01.005

脊髓性肌萎缩症的昨天、今天与明天

doi: 10.12376/j.issn.2097-0501.2022.01.005

戴毅,
崔丽英^,

中国医学科学院北京协和医院神经科, 北京 100730

详细信息

通信作者:
崔丽英，E-mail: pumchcuily@sina.com

中图分类号: R741
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出版历程
- 收稿日期: 2021-12-28
- 修回日期: 2022-01-06

Spinal Muscular Atrophy: History, Current Status and Future

DAI Yi,
CUI Liying^,

Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China

More Information

Corresponding author: CUI Liying, E-mail: pumchcuily@sina.com

摘要

摘要: 脊髓性肌萎缩症(spinal muscular atrophy, SMA)从医学文献中的首例病例报道至今已跨越百年。在这百余年的发展历程中，SMA经历了临床描述、病例积累、疾病分型探索、致病基因定位与克隆、基因诊断临床应用、动物模型建立、疾病修正治疗药物研发与患者使用等诸多阶段，未来SMA还要向发病机制研究、携带者筛查与精准预防, 以及新治疗探索等方向发展。作为单基因遗传病的代表，回顾SMA诊治进步历程、新药研发过程和未来发展方向，有助于引领和带动整个罕见病领域的进步，助推罕见病事业不断向前发展。
- 脊髓性肌萎缩症 /
- 疾病修正治疗 /
- 基因治疗 /
- 基因诊断 /
- 携带者筛查
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.
- spinal muscular atrophy(SMA) /
- disease modifying therapy /
- gene therapy /
- genetic testing /
- carrier screening
注释:

作者贡献：戴毅查找资料，组织材料，撰写初稿；崔丽英确定主题，修改初稿，最终审核定稿。

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