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. © 2009 Springer-Verlag.
CITATION STYLE
Figueroa, J. J., & Chapin, J. E. (2010). Isolated facial diplegia and very late-onset myopathy in two siblings: Atypical presentations of facioscapulohumeral dystrophy. Journal of Neurology, 257(3), 444–446. https://doi.org/10.1007/s00415-009-5346-5
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