Fetal arthrogryposis and maternal serum antibodies

• 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
• ISSN: 0960-8966; 1873-2364
• DOI: 10.1016/j.nmd.2006.05.015

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.