Medical College of Wisconsin
CTSICores SearchResearch InformaticsREDCap

Isolated facial diplegia and very late-onset myopathy in two siblings: atypical presentations of facioscapulohumeral dystrophy. J Neurol 2010 Mar;257(3):444-6

Date

10/15/2009

Pubmed ID

19826857

DOI

10.1007/s00415-009-5346-5

Scopus ID

2-s2.0-77951206247 (requires institutional sign-in at Scopus site)   7 Citations

Abstract

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.

Author List

Figueroa JJ, Chapin JE

Author

Juan Jose Figueroa MD Assistant Professor in the Neurology department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Age Factors
Age of Onset
Aged
Chromosomes, Human, Pair 4
DNA Mutational Analysis
Disability Evaluation
Disease Progression
Facial Muscles
Female
Gene Deletion
Humans
Male
Middle Aged
Muscular Diseases
Muscular Dystrophy, Facioscapulohumeral
Mutation
Phenotype
Severity of Illness Index