中国遗传性共济失调诊治专家共识2024
Chinese expert consensus on the diagnosis and treatment of hereditary ataxia 2024
中华医学会神经病学分会神经遗传学组 江泓 1吴志英2
作者信息
- 1. 中南大学湘雅医院神经内科,长沙410008
- 2. 浙江大学医学院附属第二医院医学遗传科,罕见病诊治中心,杭州 310009
- 折叠
摘要
遗传性共济失调(HA)是一大类具有高度临床和遗传异质性的神经遗传性疾病.为提高临床医师对HA的认识及诊治水平,我国HA诊治领域的专家在2015版《遗传性共济失调诊断与治疗专家共识》的基础上进行了更新和完善,并在中华医学会神经病学分会神经遗传学组会议上反复讨论修改后定稿,进一步制订了此共识.共识内容包括HA的分子分型、临床表现、辅助检查、诊断、鉴别诊断、治疗及遗传咨询等.
Abstract
Hereditary ataxia(HA)is a group of neurogenetic diseases with high clinical and genetic heterogeneity In order to improve the understanding of this disease,experts in the field of HA in China have improved and revised the 2015 version of the"Expert consensus on the diagnosis and treatment of genetic ataxia"and developed this consensus.The revised consensus has been repeatedly discussed and finalized at meetings of Chinese Society of Neurogenetics.This consensus includes molecular genetics,clinical manifestations,diagnostic tests,diagnosis and differential diagnosis,treatment,and genetic counseling of HA.
关键词
遗传性共济失调/诊断/治疗/专家共识Key words
Hereditary ataxia/Diagnosis/Treatment/Consensus引用本文复制引用
出版年
2024
NETL
NSTL
万方数据