Foetal acetylcholine receptor antibody associated disorders (FARAD)
Evidence-based neurology checklist on foetal acetylcholine receptor antibody associated disorders (farad): Pathology These result from inactivation of the foetal acetylcholine receptor (fAChR) This is due to attack by maternal acetylcholine receptor antibodies The foetal subunit is usually…
Pathology
- These result from inactivation of the foetal acetylcholine receptor (fAChR)
- This is due to attack by maternal acetylcholine receptor antibodies
- The foetal subunit is usually replaced by the adult subunit at 33-week gestation
- The foetal to adult AChR ratio predicts the severity
- The mother may not have clinically evident myasthenia gravis
Component syndromes
Clinical features
Differential diagnosis: Escobar syndrome
Differential diagnosis: others
Investigations
Maternal treatment: from the first trimester
Neonatal treatment
References
- Allen NM, O'Rahelly M, Eymard B, et al. The emerging spectrum of foetal acetylcholine receptor antibody-associated disorders (FARAD). Brain 2023 (Online ahead of print).
- Oskoui M, Jacobson L, Chung WK, et al. Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis. Neurology 2008; 71:2010-2012.
- D'Amico A, Bertini E, Bianco F, et al. Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis: a case report. Neuromuscul Disord 2012; 22:546-548.
- Hacohen Y, Jacobson LW, Byrne S, et al. Fetal acetylcholine receptor inactivation syndrome: a myopathy due to maternal antibodies. Neurol Neuroimmunol Neuroinflamm 2014; 2:e57.
- Riemersma S, Vincent A, Beeson D, et al. Association of arthrogryposis multiplex congenita with maternal antibodies inhibiting fetal acetylcholine receptor function. J Clin Invest 1996; 98:2358-2363.
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