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
10/15/2009Pubmed ID
19826857DOI
10.1007/s00415-009-5346-5Scopus ID
2-s2.0-77951206247 (requires institutional sign-in at Scopus site) 7 CitationsAbstract
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 JEAuthor
Juan Jose Figueroa MD Assistant Professor in the Neurology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Age FactorsAge 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