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CONGENITAL MYASTHENIA ASSOCIATED WITH FACIAL MALFORMATIONS IN IRAQI AND IRANIAN JEWS
A NEW GENETIC SYNDROME

YOCHANAN GOLDHAMMER, ILAN BLATT, MENACHEM SADEH, RICHARD M. GOODMAN
DOI: http://dx.doi.org/10.1093/brain/113.5.1291 1291-1306 First published online: 1 October 1990

Summary

Fourteen Jewish patients from 10 families of either Iraqi or Iranian origin with congenital myasthenia had associated facial malformations which included an elongated face, mandibular prognathism with class III malocclusion and a high-arched palate. Other common features were muscle weakness restricted predominantly to ptosis, weakness of facial and masticatory muscles, and fatiguable speech; mild and nonprogressive course; response to cholinesterase inhibitors; absence of antibodies to acetylcholine receptor; decremental response on repetitive stimulation at 3 Hz but no repetitive compound muscle action potential in response to a single nerve stimulus. This newly recognized form of congenital myasthenia with distinctive ethnic clustering and associated facial malformations is transmitted as an autosomal recessive disorder. The facial abnormalities may be secondary to the neuromuscular defect or may be primary and unrelated. Further studies are needed to elucidate the defect in neuromuscular transmission responsible for the pathogenesis of this syndrome.