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假肥大型肌营养不良治疗进展
引用本文:蔡潇艺,娄丹,杨兴鸽.假肥大型肌营养不良治疗进展[J].中国临床研究,2022(2).
作者姓名:蔡潇艺  娄丹  杨兴鸽
作者单位:河南科技大学临床医学院;河南科技大学第一附属医院
基金项目:河南省医学科技攻关计划联合共建项目(LHGJ20200527)。
摘    要:假肥大型肌营养不良是一组严重性进行性遗传性肌病,有假肥大型肌营养不良(duchenne muscular dystrophy,DMD)和良性Duchenne肌营养不良(BMD)两种类型。由于DMD/BMD是X连锁隐性遗传性疾病,男性多发,且DMD最常见,全世界每3500~5000个新生儿中就会有一名患者,女性携带者大多表型正常,少数可出现部分症状,是罕见病中的常见病。患儿的护理和疾病管理改善减缓了疾病的进展,但目前的治疗方法无法阻止肌肉组织和功能的无情丧失,导致过早死亡。本文通过查阅国内外文献对DMD/BMD型肌营养不良的治疗进展作一综述。

关 键 词:假肥大型肌营养不良  遗传  肌酸激酶  肌电图  治疗  激素  基因治疗

Advances in the treatment of Duchenne muscular dystrophy
CAI Xiao-yi,LOU Dan,YANG Xing-ge.Advances in the treatment of Duchenne muscular dystrophy[J].Chinese Journal of Clinical Research,2022(2).
Authors:CAI Xiao-yi  LOU Dan  YANG Xing-ge
Institution:(Clinical School of Henan University of Science and Technology,Luoyang,Henan 471003,China;不详)
Abstract:Duchenne muscular dystrophy is a group of serious progressive hereditary myopathy,including Duchenne muscular dystrophy(DMD)and Becker muscular dystrophy(BMD).Because DMD/BMD is an X-linked recessive hereditary disease,it is common in male,and DMD is the most.There is one patient in every 3500-5000 newborns in the world,most female carriers have a normal phenotype,and a few may have some symptoms.They are common diseases among rare diseases.It is a common disease among rare diseases.Improvements in child care and disease management have slowed the progression of the disease,but current treatment methods cannot prevent the relentless loss of muscle tissue and function,leading to premature death.This article reviews the progress of the treatment of DMD/BMD muscular dystrophy by consulting domestic and foreign literature.
Keywords:Duchenne muscular dystrophy  Inheritance  Creatine kinase  Electromyography  Treatment  Hormone  Gene therapy
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