Document Detail

Congenital myasthenia associated with facial malformations in Iraqi and Iranian Jews. A new genetic syndrome.
MedLine Citation:
PMID:  2245297     Owner:  NLM     Status:  MEDLINE    
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 fatigable 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.
Y Goldhammer; I Blatt; M Sadeh; R M Goodman
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Brain : a journal of neurology     Volume:  113 ( Pt 5)     ISSN:  0006-8950     ISO Abbreviation:  Brain     Publication Date:  1990 Oct 
Date Detail:
Created Date:  1991-01-10     Completed Date:  1991-01-10     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0372537     Medline TA:  Brain     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  1291-306     Citation Subset:  AIM; IM    
Department of Neurology, Chaim Sheba Medical Center, Tel Hashomer, Israel.
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MeSH Terms
Blepharoptosis / complications
Facial Bones / abnormalities*,  pathology
Iran / ethnology
Iraq / ethnology
Muscles / physiopathology
Neurologic Examination
Neuromuscular Diseases / complications,  ethnology,  genetics*

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