Document Detail


Familial hemifacial spasm: report of cases and review of literature.
MedLine Citation:
PMID:  11790389     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We describe clinical characteristics of 10 patients (five families) with familial hemifacial spasm, with reviews of 13 patients hitherto reported in the literature. There is no clear difference in clinical manifestations between sporadic and familial hemifacial spasms. There is no definite inheritance pattern, but may be autosomal dominant with low penetrance. The ages of onset of familial hemifacial spasm are variable, but occasionally can occur at early years of life. There is a left-side predominance with respect to the affected side of cases with familial hemifacial spasm. Similar to sporadic hemifacial spasm, vascular decompression was effective, suggesting that vascular compression is involved in generating hemifacial spasm even in the familial cases. Familial hemifacial spasm may not be a rare disorder, but may possibly be overlooked. Clarifying the role of genetic susceptibility in pathophysiological mechanisms underlying hemifacial spasm is an important approach toward better understanding of the pathogenesis of cranial rhizopathies.
Authors:
Hideto Miwa; Yoshikuni Mizuno; Tomoyoshi Kondo
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Journal of the neurological sciences     Volume:  193     ISSN:  0022-510X     ISO Abbreviation:  J. Neurol. Sci.     Publication Date:  2002 Jan 
Date Detail:
Created Date:  2002-01-15     Completed Date:  2002-03-20     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0375403     Medline TA:  J Neurol Sci     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  97-102     Citation Subset:  IM    
Affiliation:
Department of Neurology, Wakayama Medical University, 811-1 Kimiidera, Wakayama 641-8510, Japan. h-miwa@wakayama-med.ac.jp
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MeSH Terms
Descriptor/Qualifier:
Adult
Age of Onset
Aged
Aged, 80 and over
Botulinum Toxin Type A / therapeutic use
Decompression, Surgical
Facial Nerve / drug effects,  physiopathology*,  surgery
Facial Nerve Diseases / genetics*,  physiopathology*,  therapy
Family Health*
Female
Functional Laterality / genetics
Genetic Predisposition to Disease / genetics
Hemifacial Spasm / genetics*,  physiopathology*,  therapy
Humans
Male
Middle Aged
Pedigree
Treatment Outcome
Chemical
Reg. No./Substance:
0/Botulinum Toxin Type A

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


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