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

doi:10.11852/zgetbjzz2018-26-03-01

Abstract

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:

R179

YANG Ru-lai. Clinical characteristics and advance on diagnosis and treatment of duchenne muscular dystrophy[J]. journal1, 2018, 26(3): 233-235.

杨茹莱. 杜氏肌营养不良临床特点及诊治进展[J]. 中国儿童保健杂志, 2018, 26(3): 233-235.

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