Document Detail

Isolated facial diplegia and very late-onset myopathy in two siblings: atypical presentations of facioscapulohumeral dystrophy.
MedLine Citation:
PMID:  19826857     Owner:  NLM     Status:  MEDLINE    
We report two elderly siblings with atypical myopathic weakness due to facioscapulohumeral dystrophy (FSHD). The proband presented with isolated facial diplegia, and her brother developed late onset facial and limb-girdle weakness. Both siblings had a 4q35 deletion with the same residual fragment size (25 kb) confirming FSHD. This report highlights the clinical heterogeneity and intrafamily variability of FSHD.
Juan J Figueroa; John E Chapin
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2009-10-14
Journal Detail:
Title:  Journal of neurology     Volume:  257     ISSN:  1432-1459     ISO Abbreviation:  J. Neurol.     Publication Date:  2010 Mar 
Date Detail:
Created Date:  2010-03-15     Completed Date:  2010-06-15     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0423161     Medline TA:  J Neurol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  444-6     Citation Subset:  IM    
Department of Neurology, University of New Mexico, Albuquerque, NM, USA.
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MeSH Terms
Age Factors
Age of Onset
Chromosomes, Human, Pair 4 / genetics
DNA Mutational Analysis
Disability Evaluation
Disease Progression
Facial Muscles / physiopathology*
Gene Deletion
Middle Aged
Muscular Diseases / etiology*,  physiopathology*
Muscular Dystrophy, Facioscapulohumeral / complications*,  physiopathology*
Mutation / genetics
Severity of Illness Index

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