在脊髓性肌肉萎縮症中,電生理測量法可以用於評估運動神經元的狀態22  

  • 複合式肌肉動作電位(CMAP)反應是一種測量特定肌肉或肌肉群組,接受到支配神經刺激後的電生理輸出信號23
  • 運動單位數量估計(MUNE)是一種估算方法,估算在特定肌肉的收縮中,參與其中的運動單位數量24

運動單位包括運動神經元和受神經支配的肌纖維。25

部分脊髓性肌肉萎縮症患者的CMAP可能迅速下降22

趨勢線代表脊髓性肌肉萎縮病患CMAP的下降。 陰影區塊表示估計的正常值。

改編自Swoboda等人。22

一項臨床研究顯示,SMA嬰兒的平均CMAP峰值振幅為1.4 mV(標準差 = 2.2,n = 25),健康兒童為5.5 mV(標準差= 2.0,n = 27;P <0.01)。5 

I型SMA患者的自然病史研究資料顯示,患者的CMAP振幅異常低下且在症狀出現後並無改善26

綠色的小圓點表示為其兄弟姐妹中有一位之前被診斷罹患SMA,在症狀發生前通過基因檢測確診的兒童。

改編自Swoboda等人。22    

早期診斷對脊髓性肌肉萎縮症患者極為重要26

從SMA運動神經元喪失的模式中可看出,應儘早對嬰兒型(I 型)SMA介入照護,包括在運動神經元顯著喪失之前的症狀前期。26

REFERENCES 

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SMA患者的基本活動能力與病情進展如何決定日常活動與生活方式?

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