Journal of Neurology

, Volume 257, Issue 3, pp 444–446

Isolated facial diplegia and very late-onset myopathy in two siblings: atypical presentations of facioscapulohumeral dystrophy

Original Communication

DOI: 10.1007/s00415-009-5346-5

Cite this article as:
Figueroa, J.J. & Chapin, J.E. J Neurol (2010) 257: 444. doi:10.1007/s00415-009-5346-5

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.

Keywords

Facioscapulohumeral dystrophy Facial diplegia Facial weakness Myopathy Limb-girdle muscular dystrophy 

Abbreviation

FSHD

Facioscapulohumeral dystrophy

Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  1. 1.Department of NeurologyUniversity of New MexicoAlbuquerqueUSA