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基因诊断新生儿先天性脊髓肌萎缩症1例报告

Jilin Medical Journal(2020)

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Abstract
脊髓性肌萎缩(spinal muscular atrophy,SMA)是一种因脊髓前角运动神经元变性而导致的进行性肌肉无力和瘫痪的遗传性肌肉疾病,可发生于出生至成年的任何时段,婴儿期发病的患儿常引起全身肌肉无力和肌张力减低,病死率高,预后差,多数患儿最终因呼吸道感染及呼吸衰竭而死亡[1-2] .现就1 例确诊为SMA 的病例作一报告.
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