神经系统罕见病治疗进展与面临的问题

刘明生; 崔丽英

doi:10.12376/j.issn.2097-0501.2022.02.002

神经系统罕见病治疗进展与面临的问题

doi: 10.12376/j.issn.2097-0501.2022.02.002

刘明生,
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: R74
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- 文章访问数: 305
- HTML全文浏览量: 78
- PDF下载量: 76
- 被引次数: 0
出版历程
- 收稿日期: 2021-12-23
- 录用日期: 2022-01-10
- 网络出版日期: 2022-06-02

The Progression and Problems in Diagnosis and Treatment of Rare Neurological Diseases

LIU Mingsheng,
CUI Liying^,

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

More Information

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

摘要

摘要: 神经系统罕见病种类繁多，诊断和治疗均较为困难。近年来，多个治疗神经系统罕见病药物的出现，为患者带来了希望。同时，由于这些药物价格通常较为昂贵，临床医生和患者也面临着药物的可及性以及合理选择用药的问题。另外，有多种罕见病通过廉价的药物即可有效治疗，但由于临床医生缺乏相关知识而未能早期诊断，以致延误了治疗。提高罕见病早期诊断水平，对于提高罕见病患者的生活质量至关重要。
- 神经系统罕见病 /
- 治疗进展 /
- 早期诊断
Abstract: Rare neurological diseases contain of a great variety of different disease and difficult to diagnose and cure. In the past years, many drugs are approved for treatment of the rare diseases, bringing hope to patients. However, these drugs are usually very expensive, so clinicians and patients have to face the delimma of the accessibility and appropriate usage of these drugs. On the other hand, there are many rare diseases could be treated by cheaper drugs. However, diagnosis of those rare diseases is challenging and clinician's lacking knowledge of the rare diseases leads to delay in diagnosis. Improving the competence in early diagnosis of rare neurological diseases is essential for the patients to live a quality life.
- rare neurological diseases /
- progress of treatment /
- early diagnosis
注释:

作者贡献：刘明生：文章资料查找，撰写初稿; 崔丽英：研究立题，审核定稿。

利益冲突：所有作者均声明不存在利益冲突。

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