title: Isolated facial diplegia and very late-onset myopathy in two siblings: atypical presentations of facioscapulohumeral dystrophy.
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.
authors.affiliation: Department of Neurology, University of New Mexico, Albuquerque, NM, USA. figueroa.juan@mayo.edu
authors.forename: Juan J
authors.initials: JJ
authors.lastname: Figueroa
authors.forename: John E
authors.initials: JE
authors.lastname: Chapin
mesh_terms: D000367:Age Factors; D017668:Age of Onset; D000368:Aged; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D004252:DNA Mutational Analysis; D004185:Disability Evaluation; D018450:Disease Progression; D005152:Facial Muscles / Q000503:physiopathology*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008875:Middle Aged; D009135:Muscular Diseases / Q000209:etiology* / Q000503:physiopathology*; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000150:complications* / Q000503:physiopathology*; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D012720:Severity of Illness Index