国际神经病学神经外科学杂志2024，Vol.51Issue(1)：1-6,6.DOI:10.16636/j.cnki.jinn.1673-2642.2024.01.001
中国杜氏肌营养不良携带者筛查的临床实践指南
Clinical practice guidelines for screening Duchenne muscular dystrophy carriers in China
摘要
Abstract
Duchenne muscular dystrophy(DMD)is a X-linked recessive genetic disease associated with a single gene.DMD primarily affects males and has the symptom of severe and progressive muscle weakness.This condition is highly debilitating and life-threatening and has no effective treatment.However,emerging clinical data indicate that female carriers of DMD can also demonstrate various degrees of clinical symptoms.Consequently,it is vital to screen for DMD carriers to decrease the incidence of children born with this disease.The guidelines can help to identify the etiology for early prevention and guide family members regarding further reproductive decisions,thereby advancing the standardized prevention and control of this disease.关键词
杜氏肌营养不良/杜氏肌营养不良携带者/X连锁隐性遗传病/遗传咨询/临床实践指南Key words
Duchenne muscular dystrophy/Duchenne muscular dystrophy carriers/X-linked recessive genetic disease/genetic counseling/clinical practice guidelines分类
医药卫生引用本文复制引用
《中国杜氏肌营养不良携带者筛查的临床实践指南》制订组,杨飞..中国杜氏肌营养不良携带者筛查的临床实践指南[J].国际神经病学神经外科学杂志,2024,51(1):1-6,6.基金项目
国家重点研发计划(2021YFC1005300). （2021YFC1005300）
