一過性新生児筋無力症は、母体の重症筋無力症のまれな合併症です。

母親から生まれた子供の約 10 ~ 15% が抗アセチルコリン受容体 (AChR) 抗体を持ち、頻度は低いですが抗筋肉特異的キナーゼ (MuSK) を持っています。

症状は通常生後 3 日目から現れ、ほとんどの場合、両側の顔面麻痺と吸啜困難が見られます。通常、症状は生後 1 か月までに消失します。

しかし、少数の患者グループでは、胎児性ガンマサブユニット(成人ではイプシロンサブユニットに置き換わる)に対する抗体が原因で、胎児性関節固定症と成人期まで持続する球顔面麻痺を伴う、胎児性AChR不活化症候群と呼ばれる、より重篤な状態が発生する可能性があります。

受容体の不活化は、発達の重要な時期に特定の抗体に曝露されることによって起こります。

19955111 {19955111:77IWNDPL} 1 バンクーバー 50 デフォルト 3100 https://neuropediatoolkit.org/wp-content/plugins/zotpress/
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ホフマン K、ミュラー JS、ストリッカー S、メガベイン A、ラジャブ A、リンドナー TH、他。エスコバル症候群は、胎児性アセチルコリン受容体 γ サブユニットの破壊によって引き起こされる出生前筋無力症です。アメリカ人類遺伝学ジャーナル [インターネット]。 2006 年 8 月 1 日 [2022 年 10 月 15 日引用];79(2):303–12。以下から入手可能: https://www.sciencedirect.com/science/article/pii/S0002929707631371