国际神经病学神经外科学杂志2024，Vol.51Issue(2)：13-17,5.DOI:10.16636/j.cnki.jinn.1673-2642.2024.02.003
中国异染性脑白质营养不良携带者筛查临床实践指南
Clinical practice guidelines for the screening of metachromatic leukodystrophy carriers in China
摘要
Abstract
Metachromatic leukodystrophy(MLD)is an autosomal recessive genetic disorder characterized by progressive aggravation of motor,sensory,and cognitive impairments,with high disability and mortality rates,and there are currently no effective treatment methods for MLD.Therefore,carrier screening among couples in pre-pregnancy and early pregnancy is crucial in reducing the birth rate of affected children.The clinical practice guidelines aim to identify the individuals at a high risk of carrying MLD mutation,offer early genetic counseling to reduce reproductive risks,and promote standardized prevention and control of MLD.关键词
异染性脑白质营养不良/常染色体隐性遗传病/遗传咨询/临床实践指南Key words
metachromatic leukodystrophy/autosomal recessive genetic disorder/genetic counseling/clinical practice guideline分类
医药卫生引用本文复制引用
《中国异染性脑白质营养不良携带者筛查的临床实践指南》制订组,杨飞,肖波..中国异染性脑白质营养不良携带者筛查临床实践指南[J].国际神经病学神经外科学杂志,2024,51(2):13-17,5.基金项目
国家重点研发计划(2021YFC1005300). （2021YFC1005300）
