Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2010 Mar;257(3):444-6.
doi: 10.1007/s00415-009-5346-5. Epub 2009 Oct 14.

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

Juan J Figueroa  1 , John E Chapin
Affiliations
Case Reports

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

Juan J Figueroa et al. J Neurol. 2010 Mar.

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.

PubMed Disclaimer

References

    1. Arch Neurol. 1994 Apr;51(4):387-94 - PubMed
    1. Muscle Nerve. 2006 Jul;34(1):1-15 - PubMed
    1. J Med Genet. 1998 Sep;35(9):778-83 - PubMed
    1. Neurology. 2000 May 23;54(10):1927-31 - PubMed
    1. Hum Mol Genet. 1993 Dec;2(12):2037-42 - PubMed

Publication types

MeSH terms

LinkOut - more resources