Isolated facial diplegia and very late-onset myopathy in two siblings: atypical presentations of facioscapulohumeral dystrophy.
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.
Figueroa
Juan J
JJ
Department of Neurology, University of New Mexico, Albuquerque, NM, USA. figueroa.juan@mayo.edu
Chapin
John E
JE
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