Focusing on rare neurorare diseases to improve clinical diagnosis and treatment
10.3760/cma.j.cn431274-20240606-00909
- VernacularTitle:关注神经罕见病，提高临床诊治水平
- Author:
Heng WU
1
;
Beisha TANG
Author Information
1. 南华大学附属第一医院神经内科、脑疾病多组学研究中心，湖南省免疫相关性脑病临床研究中心，衡阳 421000
- Keywords:
Rare diseases;
Autoimmune diseases of the nervous system;
Spinocerebellar ataxias;
Leukodystrophy;
Neuronal intranuclear inclusion disease
- From:
Journal of Chinese Physician
2024;26(7):961-963
- CountryChina
- Language:Chinese
-
Abstract:
Rare diseases are diseases whose number of patients accounts for 0.065%-0.1% of the total population. The incidence rate of a single rare disease is low, but there are many kinds of rare diseases. According to statistics, there are more than 20 million patients with various rare diseases, which shows that rare diseases are not rare. About 40% of rare diseases are neurorare, including neuroimmune diseases (such as autoimmune encephalitis) and neurogenetic diseases (such as spinocerebellar ataxia, leukodystrophy, and intranuclear inclusion body disease). Neurological rare diseases are progressive and often lifelong, and in severe cases can be life-threatening. However, rare neurological diseases face numerous difficulties and challenges, such as difficulties in seeking medical treatment, diagnosis, and treatment. Therefore, we urgently need to pay attention to rare neurological diseases, strengthen our understanding of rare diseases, improve the level of diagnosis and treatment, service quality, carry out popular science education and innovative clinical research, in order to establish a sound diagnosis and treatment system for rare neurological diseases.
