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一种罕见的运动神经元病:远端型脊肌萎缩症(附1例报道) 被引量:3

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摘要 目的探讨远端型脊肌萎缩症(Distal spinal muscular atrophy,dSMA)的临床特征及诊断。方法对1例双下肢远端肌无力伴萎缩的患者进行临床、实验室、电生理、影像学检查。结果患者幼年起病,表现为对称性双下肢无力,病情缓慢进行性加重,逐渐出现双下肢远端对称性肌肉萎缩,血清肌酶基本正常,电生理检查提示四肢神经源性损害,感觉、运动神经传导正常。结论远端型脊肌萎缩症的临床特征与腓骨肌萎缩症、运动神经元病极为类似,实验室、电生理检查及基因检测有助于疾病的诊断。
作者 刘璐 李承晏
出处 《卒中与神经疾病》 2016年第1期63-65,共3页 Stroke and Nervous Diseases
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参考文献15

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