44-47号外显子缺失的杜氏肌营养不良1例并文献复习

One case and literature review of Duchenne muscular dystrophy without 44-47 exons

杜氏肌营养不良(Duchenne型肌营养不良,DMD)是儿童常见的肌病,当其不以运动发育落后为该病的首要表现时易被忽视。基因缺失为DMD患儿确定的主要突变,占60%~65%。该疾病患儿走路为鸭型步态,由卧位到站立位时有一个特殊的过程,即"Gower征"。婴幼儿的"Gower征"容易被忽视,AST、CK升高缺乏特异性,因此对儿童不明原因肝功能及肌酶谱异常需提高警惕。早期基因检测是一种确诊Duchenne型肌营养不良的快速、有效的方法。明确相应基因位点的缺失可能对患儿的预后进行早期评估。

Duchenne muscular dystrophy （DMD） is the most common muscle disorder in children,when it is not in motion retardation for the first clinical symptom will be easily ignored.The majority of identified mutations are deletions, accounting for 60%-65% of DMD.h is called ＂Gower syndrome＂ that children walk like duck and have a special pro- cess when they are lying down to stand up.Infants with ＂Gower syndrome＂ will be easily ignored,the level of AST or CK rising is lack of specificity,therefore,in the case of elevated liver enzymes and muscle enzymes,we should pay more at- tention.The method of the genetic testing is rapid and effective in diagnosing DMD.Being confirmed of genetic loci may have contribute to an early assessment in the prognosis of children.