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

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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.

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Abbreviations

FSHD:

Facioscapulohumeral dystrophy

References

  1. Brouwer OF, Padberg GW, Bakker E, Wijmenga C, Frants RR (1995) Early onset facioscapulohumeral muscular dystrophy. Muscle Nerve 2:S67–S72

    Article  CAS  PubMed  Google Scholar 

  2. Brouwer OF, Padberg GW, Wijmenga C, Frants RR (1994) Facioscapulohumeral muscular dystrophy in early childhood. Arch Neurol 51:387–394

    CAS  PubMed  Google Scholar 

  3. Felice KJ, Jones JM, Conway SR (2005) Facioscapulohumeral dystrophy presenting as infantile facial diplegia and late-onset limb-girdle myopathy in members of the same family. Muscle Nerve 32:368–372

    Article  PubMed  Google Scholar 

  4. Felice KJ, Moore SA (2001) Unusual clinical presentations in patients harboring the facioscapulohumeral dystrophy 4q35 deletion. Muscle Nerve 24:352–356

    Article  CAS  PubMed  Google Scholar 

  5. Felice KJ, North WA, Moore SA, Mathews KD (2000) FSH dystrophy 4q35 deletion in patients presenting with facial-sparing scapular myopathy. Neurology 54:1927–1931

    CAS  PubMed  Google Scholar 

  6. Krasnianski M, Eger K, Neudecker S, Jakubiczka S, Zierz S (2003) Atypical phenotypes in patients with facioscapulohumeral muscular dystrophy 4q35 deletion. Arch Neurol 60:1421–1425

    Article  PubMed  Google Scholar 

  7. Lemmers RJL, de Kievit P, van Geel M, van der Wielen MJ, Bakker E, Padberg GW, Frants RR, van der Maarel SM (2001) Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis. Ann Neurol 50:816–819

    Article  CAS  PubMed  Google Scholar 

  8. Lunt PW, Jardine PE, Koch MC, Maynard J, Osborn M, Williams M, Harper PS, Upadhyaya M (1995) Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD). Hum Mol Genet 4:951–958 (erratum appears in Hum Mol Genet 1995 Jul;4(7):1243–4)

    Article  CAS  PubMed  Google Scholar 

  9. Okinaga A, Matsuoka T, Umeda J, Yanagihara I, Inui K, Nagai T, Okada S (1997) Early-onset facioscapulohumeral muscular dystrophy: two case reports. Brain Dev 19:563–567

    Article  CAS  PubMed  Google Scholar 

  10. Orrell RW, Tawil R, Forrester J, Kissel JT, Mendell JR, Figlewicz DA (1999) Definitive molecular diagnosis of facioscapulohumeral dystrophy. Neurology 52:1822–1826

    CAS  PubMed  Google Scholar 

  11. Padberg G (1982) Facioscapulohumeral disease. In: Thesis, Leiden University, Leiden

  12. Padberg GW, Brouwer OF, de Keizer RJ, Dijkman G, Wijmenga C, Grote JJ, Frants RR (1995) On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy. Muscle Nerve 2:S73–S80

    Article  CAS  PubMed  Google Scholar 

  13. Tawil R, Forrester J, Griggs RC, Mendell J, Kissel J, McDermott M, King W, Weiffenbach B, Figlewicz D (1996) Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group. Ann Neurol 39:744–748

    Article  CAS  PubMed  Google Scholar 

  14. Tawil R, Storvick D, Feasby TE, Weiffenbach B, Griggs RC (1993) Extreme variability of expression in monozygotic twins with FSH muscular dystrophy. Neurology 43:345–348

    CAS  PubMed  Google Scholar 

  15. Tawil R, Van Der Maarel SM (2006) Facioscapulohumeral muscular dystrophy. Muscle Nerve 34:1–15

    Article  CAS  PubMed  Google Scholar 

  16. Tupler R, Barbierato L, Memmi M, Sewry CA, De Grandis D, Maraschio P, Tiepolo L, Ferlini A (1998) Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression. J Med Genet 35:778–783

    Article  CAS  PubMed  Google Scholar 

  17. Uncini A, Galluzzi G, Di Muzio A, De Angelis MV, Ricci E, Scoppetta C, Servidei S (2002) Facioscapulohumeral muscular dystrophy presenting isolated monomelic lower limb atrophy. Report of two patients with and without 4q35 rearrangement. Neuromuscul Disord 12:874–877

    Article  CAS  PubMed  Google Scholar 

  18. van der Kooi AJ, Visser MC, Rosenberg N, van den Berg-Vos R, Wokke JH, Bakker E, de Visser M (2000) Extension of the clinical range of facioscapulohumeral dystrophy: report of six cases. J Neurol Neurosurg Psychiatry 69:114–116

    Article  PubMed  Google Scholar 

  19. van Deutekom JC, Wijmenga C, van Tienhoven EA, Gruter AM, Hewitt JE, Padberg GW, van Ommen GJ, Hofker MH, Frants RR (1993) FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet 2:2037–2042

    Article  PubMed  Google Scholar 

  20. Wijmenga C, Frants RR, Brouwer OF, Moerer P, Weber JL, Padberg GW (1990) Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet 336:651–653

    Article  CAS  PubMed  Google Scholar 

  21. Wijmenga C, Padberg GW, Moerer P, Wiegant J, Liem L, Brouwer OF, Milner EC, Weber JL, van Ommen GB, Sandkuyl LA (1991) Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization. Genomics 9:570–575

    Article  CAS  PubMed  Google Scholar 

  22. Winokur ST, Bengtsson U, Feddersen J, Mathews KD, Weiffenbach B, Bailey H, Markovich RP, Murray JC, Wasmuth JJ, Altherr MR (1994) The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease. Chromosome Res 2:225–234

    Article  CAS  PubMed  Google Scholar 

  23. Zatz M, Marie SK, Passos-Bueno MR, Vainzof M, Campiotto S, Cerqueira A, Wijmenga C, Padberg G, Frants R (1995) High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families. Am J Hum Genet 56:99–105

    CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Department of Neurology, University of New Mexico, Albuquerque, NM, USA

    Juan J. Figueroa & John E. Chapin

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  1. Juan J. Figueroa
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  2. John E. Chapin
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Correspondence to Juan J. Figueroa.

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Figueroa, J.J., Chapin, J.E. Isolated facial diplegia and very late-onset myopathy in two siblings: atypical presentations of facioscapulohumeral dystrophy. J Neurol 257, 444–446 (2010). https://doi.org/10.1007/s00415-009-5346-5

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  • DOI: https://doi.org/10.1007/s00415-009-5346-5

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