Association of neonatal myasthenia gravis with antibodies against the fetal acetylcholine receptor.

Abstract

The specificities of autoantibodies directed against the acetylcholine receptor (AChR) for embryonic and adult muscle AChR were studied in 22 mothers with myasthenia gravis (MG) and in their newborns using human fetus and normal adult muscle AChR preparations. 12 mothers had transmitted MG to their neonates with, in three cases, antenatal injury. A clear correlation was found between occurrence of neonatal MG (NMG) and the high overall level of antiAChR antibodies (embryonic or adult muscle AChR). However, a strong correlation was also found between occurrence of NMG and the ratio of anti-embryonic AChR to anti-adult muscle (Te/Ta) AChR antibodies (P < 0.0002). Taken together, these data suggest that autoantibodies directed against the embryonic form of the AChR could play a predominant role in the pathogenesis of NMG. Paradoxically, the three cases with antenatal injury presumably the most severe form of NMG, were not associated with high Te/Ta. At the clinical level, these observations could prove helpful in the prediction of transmission of NMG. (J. Clin. Invest. 1994. 94:555-559.)

No increased risk of adverse pregnancy outcomes for women with myasthenia gravis: a nationwide population‐based study

“…While some diseases are fatal early in life, early identification and appropriate treatment can be essential in prolonging survival into adulthood. Prior studies have proposed that it is not the clinical symptoms of the MG mother, but rather, her type of antibodies, which is a critical determinant of whether her newborn will develop neonatal MG, and in a few cases, arthrogryposis multiplex congenita [22]. More studies are needed that further investigate the connection between maternal MG and associated neonatal complications in order to give more reliable genetic advice to parents, and to organize more effective and realistic management.…”

Asymptomatic myasthenia gravis influences pregnancy and birth

“…Two forms of AChR exist; the adult and the fetal isoform. Antibodies are formed against both isoforms, and some patients have a higher amount of antibodies against the fetal form (Vernet de Garabedian et al. , 1994).…”

“…, 1994). A high ratio of anti‐embryonic AChR to anti‐adult AChR in the mother has been linked to the occurrence of neonatal MG (Vernet de Garabedian et al. , 1994; Gardnerova et al.…”

Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome

“…Such cases are associated with maternal autoantibodies against the embryonic form of the AChR. 20,21 Since pterygia was not observed in these cases, it seems that the MPS phenotype results from earlyonset fetal akinesia. Interestingly, antiembryonal AChR antibodies may result not only in arthrogryposis and features of fetal akinesia but may also be associated with abnormalities in the brain and heart.…”