journal1 ›› 2018, Vol. 26 ›› Issue (3): 233-235.DOI: 10.11852/zgetbjzz2018-26-03-01

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Clinical characteristics and advance on diagnosis and treatment of duchenne muscular dystrophy

YANG Ru-lai   

  1. Department of Genetics and Metabolism,Children's Hospital,Zhejiang University School of Medicine,Hangzhou,Zhejiang 310052,China
  • Received:2017-09-11 Online:2018-03-10 Published:2018-03-10



  1. 浙江大学医学院附属儿童医院遗传与代谢科,浙江 杭州 310052
  • 作者简介:杨茹莱(1963-),女,浙江人,主任医师,学壬学位,主要研究 方向为儿童保健以及新生儿遗传代谢筛查与诊治。
  • 基金资助:

Abstract: Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disease related to muscles,and is mainly treated clinically by glucocorticoid.Early diagnosis and treatment for patients can improve the quality of life and prolong their lives.It is possible to diagnose and give treatment earlier through newborn DMD screening.Meanwhile,recent significant progresses on DMD treatment have been made in terms of medication,gene therapy and bone marrow stem cell transplantation.

Key words: duchenne muscular dystrophy, diagnosis, treatment, newborn screening

摘要: 杜氏肌营养不良(Duchenne muscular dystrophy,DMD)是一种常见的X染色体连锁隐性遗传性肌肉疾病,临床上主要以糖皮质激素治疗为主。早期诊断、早期治疗可改善患者生活质量,延长患者生命,DMD新生儿筛查为其早期诊治提供可能。近年来DMD在药物治疗、基因治疗、骨髓干细胞移植等方面均取得重大进展。

关键词: 杜氏肌营养不良, 诊断, 治疗, 新生儿筛查

CLC Number: