Document Detail

Clinical features of oculopharyngeal muscular dystrophy among Bukhara Jews.
MedLine Citation:
PMID:  8186715     Owner:  NLM     Status:  MEDLINE    
Oculopharyngeal muscular dystrophy (OPMD), a late onset autosomal dominant myopathy, is common among the French-Canadians and the Jews from Bukhara (Uzbekistan); most clinical histologic and genetic data published until now, as well as the recently suggested diagnostic criteria, are based on studies among the former. We studied 79 patients with OPMD belonging to the newly described Jewish-Bukhara cluster. The disease began between the ages of 21 and 78 yr (median 53 yr). In 11 patients (15%) it began before the age of 40. Ptosis was the first symptom in 59 patients and dysphagia in the remaining 20. Eight patients (10%) were monosymptomatic (ptosis) after more than 7 yr from the start of the disease; however, other family members had additional signs/symptoms. The patients belong to 29 families; in 26 age-dependent autosomal dominant inheritance could be documented. Among them there is certain evidence for genetic anticipation. This clinical study is the largest published concerning patients other than French-Canadians.
S C Blumen; P Nisipeanu; M Sadeh; A Asherov; F M Tomé; A D Korczyn
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Neuromuscular disorders : NMD     Volume:  3     ISSN:  0960-8966     ISO Abbreviation:  Neuromuscul. Disord.     Publication Date:    1993 Sep-Nov
Date Detail:
Created Date:  1994-06-23     Completed Date:  1994-06-23     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9111470     Medline TA:  Neuromuscul Disord     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  575-7     Citation Subset:  IM    
Department of Neurology, Hillel Yaffe Medical Center, Hadera, Israel.
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MeSH Terms
Age of Onset
France / ethnology
Genes, Dominant
Middle Aged
Muscular Dystrophies / genetics,  pathology,  physiopathology*
Oculomotor Muscles*
Pharyngeal Muscles*
Uzbekistan / ethnology

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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