Fetal arthrogryposis and maternal serum antibodies

Arthrogryposis multiplex congenital (AMC) describes multiple joint contractures resulting from lack of movement in utero. Antibodies directed at the fetal isoform of the muscle acetylcholine receptor (AChR) have been reported in a small number of asymptomatic mothers of AMC babies. We examined sera...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2006-08, Vol.16 (8), p.481-491
Main Authors: Dalton, Paola, Clover, Linda, Wallerstein, Robert, Stewart, Helen, Genzel-Boroviczeny, Orsolya, Dean, Andrew, Vincent, Angela
Format: Article
Language:English
Subjects:
Acetylcholine receptor
Adult
Animals
Animals, Newborn
Arthrogryposis
Arthrogryposis - blood
Arthrogryposis - immunology
Arthrogryposis - physiopathology
Autoantibodies - blood
Autoantibodies - immunology
Autoimmune Diseases - blood
Autoimmune Diseases - diagnosis
Autoimmune Diseases - immunology
Autoimmunity
Cell Line
Cross Reactions - immunology
Female
Fetal Diseases - blood
Fetal Diseases - immunology
Fetal Diseases - physiopathology
Humans
Infant, Newborn
Male
Mice
Muscle antibodies
Muscle, Skeletal - innervation
Muscle, Skeletal - physiopathology
Myasthenia gravis
Neurodevelopmental disorder
Neuromuscular Junction - immunology
Neuromuscular Junction - physiopathology
Neuronal antibodies
Pregnancy
Receptors, Cholinergic - immunology
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Summary:Arthrogryposis multiplex congenital (AMC) describes multiple joint contractures resulting from lack of movement in utero. Antibodies directed at the fetal isoform of the muscle acetylcholine receptor (AChR) have been reported in a small number of asymptomatic mothers of AMC babies. We examined sera from 179 mothers of AMC babies and 20 parous and non-parous controls to look for antibodies to AChR or undefined muscle or neuronal proteins. We found positive AChR antibodies in only three sera (1.5%) from asymptomatic AMC mothers. However, there was reactivity with muscle or with neuronal antigens in 33% of the sera, and reactivity to undefined neuronal antigens was more common in sera from mothers of AMC babies with CNS involvement ( p = 0.001) than those without. The offspring of mothers with AChR antibodies may benefit from treatment during pregnancy. Other maternal antibodies require further study, but these observations add to the emerging literature on maternal antibodies associated with developmental intrauterine disorders.
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2006.05.015