神经病学与神经康复学杂志2025，Vol.21Issue(5)：353-360,8.DOI:10.12022/jnnr.2025-0275
神经系统罕见病的分类及诊治进展
Classification and advances in the diagnosis and treatment of rare neurological diseases
张小钰 1赵振博 1唐浏丰 1关爱 1李宛霖 1王刚 2刘晓云 1王华龙2
作者信息
- 1. 河北医科大学第一医院神经内科,河北 石家庄 050000
- 2. 上海交通大学医学院附属仁济医院神经内科,上海 200127
- 折叠
摘要
Abstract
Rare neurological diseases account for approximately 60%of all rare diseases,representing a category with a relatively large patient population and wide-ranging impact.These disorders are highly heterogeneous,with complex clinical manifestations that may involve neuromuscular,metabolic,immune,or developmental pathways.As a result,they are difficult to diagnose and prone to misdiagnosis.Currently,there is no internationally unified classification standard specifically for rare neurological diseases.In clinical practice,these conditions often face challenges such as delayed diagnosis and limited access to treatment.This article reviews the classification,diagnosis,and treatment of rare neurological diseases,aiming to provide clinical reference.关键词
神经系统罕见病/分类/诊断/治疗进展Key words
Rare neurological diseases/Classification/Diagnosis/Therapeutic advances引用本文复制引用
张小钰,赵振博,唐浏丰,关爱,李宛霖,王刚,刘晓云,王华龙..神经系统罕见病的分类及诊治进展[J].神经病学与神经康复学杂志,2025,21(5):353-360,8.
