Key result
Maternal anti-acetylcholine receptor antibodies from asymptomatic myasthenia gravis caused fetal akinesia/hypokinesia sequence (Pena-Shokeir phenotype) in six siblings.
Asymptomatic maternal myasthenia gravis can cause fetal akinesia/hypokinesia sequence (Pena-Shokeir phenotype) in offspring due to placental transfer of anti-AChR antibodies.
Screening for asymptomatic maternal myasthenia gravis may be considered in recurrent fetal akinesia; this case report extends prior observations but leaves broader applicability open.
We report six sibs with arthrogryposis multiplex congenita and a Pena-Shokeir phenotype, born to a healthy woman who was discovered to have asymptomatic myasthenia gravis (MG). This is the first report of anti-acetylcholine receptor (AChR) antibodies causing fetal akinesia/hypokinesia sequence in the offspring of an asymptomatic mother.
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Brueton et al. (2000) studied this question. Maternal anti-acetylcholine receptor antibodies from asymptomatic myasthenia gravis caused fetal akinesia/hypokinesia sequence (Pena-Shokeir phenotype) in six siblings.
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