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BACKGROUND: Arthrogryposis multiplex congenita (AMC) is defined as nonprogressive congenital contractures that generally result from lack of fetal movement in utero. AMC is a feature of many congenital disorders caused by genetic, environmental, or other factors. One rare cause of AMC is maternal myasthenia gravis (MG). This is an autoimmune disorder, caused by antibodies to the nicotinic acetylcholine receptor (AChR), and resulting in weakness of voluntary muscles. In 10-15% of babies born to MG mothers, transient signs of MG are noted after placental transfer of anti-AChR antibodies. In a few cases, AMC predominates. METHODS: We review the role of antibodies to AChR in MG and in AMC associated with maternal antibodies to AChR. RESULTS: In anti-AChR antibody-associated AMC, fetal or neonatal death is common; other deformities or CNS abnormalities are common as well. The condition usually recurs in each pregnancy unless the mother is treated for MG, but some mothers are asymptomatic. The maternal antibodies cross the placenta and block the function of the fetal isoform of the AChR leading to fetal paralysis. Injection of maternal plasma into pregnant mice results in AMC in mouse fetuses. Some women with recurrent AMC in their babies have no detectable anti-AChR suggesting the presence of antibodies to other fetal muscle or neuronal proteins. CONCLUSIONS: Although rare, anti-AChR-associated AMC is potentially treatable and can be diagnosed by a routine antibody test. The mouse model can be used to investigate the role of these and other maternal antibodies in causing congenital conditions.

Original publication

DOI

10.1002/1096-9926(200011)62:5<332::AID-TERA7>3.0.CO;2-E

Type

Journal article

Journal

Teratology

Publication Date

11/2000

Volume

62

Pages

332 - 341

Keywords

Animals, Arthrogryposis, Autoantibodies, Embryonic and Fetal Development, Female, Humans, Mice, Myasthenia Gravis, Pregnancy, Receptors, Cholinergic