Becker型肌营养不良心肌病的诊治进展  

Progress in the diagnosis and treatment of Becker muscular dystrophy cardiomyopathy

作　　者：罗新林 樊朝美 Luo Xinlin;Fan Chaomei(Department of Cardiology,Shenzhen Hospital,Fuwai Hospital,Chinese Academy of Medical Sciences,Shenzhen 518020,China;Heart Failure Care Unit,Heart Failure Center,Fuwi Hospital,Chinese Academy of Medical Sciences,Beijing100037,China)

机构地区：[1]中国医学科学院阜外医院深圳医院心内科,深圳518020 [2]中国医学科学院阜外医院心力衰竭中心心衰重症监护病区,北京100037

出　　处：《中华心力衰竭和心肌病杂志（中英文）》2021年第2期123-127,共5页Chinese Journal of Heart Failure and Cardiomyopathy

摘　　要：肌营养不良症是由细胞骨架肌营养不良蛋白(dystrophin,DYS)基因突变引起一组的神经肌肉疾病,包括Duchenne型肌营养不良症(DMD),Becker型肌营养不良症(BMD),X-连锁扩张型心肌病,以及DMD/BMD女性携带者。其中BMD是由于DYS基因突变导致其编码的肌纤维膜上的DYS蛋白部分表达缺失引起的X连锁隐性遗传性肌肉疾病,以骨骼肌进行性萎缩和肌无力为主要表现,心肌受累也常见。近年来关于BMD心肌病诊治方面取得许多进展。因此,本文就BMD心肌病及其发病机制、临床表现、诊断、鉴别诊断和治疗等方面进行综述。Muscular dystrophy is a group of distinct neuromuscular diseases caused by mutations in the cytoskeletal muscular dystrophin(DYS)gene,including Duchenne muscular dystrophy(DMD)and Becker muscular dystrophy(BMD),X-linked dilated cardiomyopathy,and female carriers of DMD/BMD.BMD is an X-linked recessive muscle disease caused by the partial loss of expression of DYS protein on the muscle fiber membrane due to the mutation of the DYS gene,which is mainly manifested by progressive atrophy and muscle weakness of skeletal muscle,and myocardial involvement is also common.Recently,many advances have been made in the diagnosis and treatment of BMD cardiomyopathy.Thus,this article will introduce pathogenesis,clinical manifestations,diagnosis,differential diagnosis and treatment of BMD cardiomyopathy.

关 键 词：BECKER型肌营养不良 肌营养不良蛋白 心肌病 心力衰竭 

分 类 号：R746.2[医药卫生—神经病学与精神病学] R542.2[医药卫生—临床医学]