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

杜氏肌营养不良(DMD)是一种X连锁隐性遗传的单基因病,多以男性起病,表现为严重的、进行性加重的肌无力。其致残致死性高,目前尚无有效治疗。越来越多的临床证据表明,女性携带者亦可出现不同程度的临床症状。因此,DMD携带者筛查是降低患儿出生率的关键。该实践指南目的旨在快速明确DMD的病因,及早干预,并指导家系成员再生育,进一步促进DMD的规范化防控。

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.