杜氏进行性肌营养不良的临床实践指南

杜氏进行性肌营养不良(Duchemiemusculardystmphy.DMD)是最常见的X连锁隐性遗传性肌肉变性疾病,在男性新生儿中的发病率约为1/3500。DMD是由于Xp21.2区的抗肌萎缩蛋白基因(dystrop,DMD)突变所致,患者的主要临床表现包括进行性、对称性肌无力。由于呼吸肌和心肌受累,通常在30岁前死亡。通过基因检测,可以为93.1%的患者找到遗传学病因,为早期治疗和指导家庭成员的生育奠定基础,有利于改善患者的生存质量,预防这些家庭再次生育DMD患儿。本指南结合了国内外的相关研究和指南共识,总结了DMD相关的医学遗传学知识和临床处置要点,期望能给予临床工作者帮助,为DMD患者及其家庭提供规范的诊断、治疗和预防。

Clinical practice guidelines for Duchenne muscular dystrophy

Duchenne muscular dystrophy(DMD)is the most common X-linked recessive disorder of the neuromuscular system.The incidence of DMD in male newborns is approximately 1 in 3500.It is caused by mutations of dystrophin(DMD)gene in Xp21.2 region.The main clinical manifestations of DMD include progressive and symmetrical myasthenia.Due to the involvement of respiratory muscles and myocardium.DMD patients usually die before the age of 30.Genetic testing can uncover the mutations in 93.1%of the patients and lay a foundation for early treatment,improving the quality of life of patients,and preventing the families from having further affected children.This guideline has combined relevant research,guideline and consensus issued at home and abroad,and summarized genetic knowledge and clinical treatment for DMD,with the aim to standardize the diagnosis,treatment and prevention for patients and their families.