Skip to main content

Facioscapulohumeral Muscular Dystrophy

  • Chapter
  • First Online:
Neuromuscular Disorders in Clinical Practice
  • 5896 Accesses

Abstract

Facioscapulohumeral muscular dystrophy is a common autosomal dominant muscular dystrophy with distinctive distribution of muscle weakness. This chapter discusses the etiology, pathogenesis, genetics, clinical manifestations, management, and prognosis of this disorder.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 229.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 299.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 449.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Flanigan KM, Coffeen CM, Sexton L, Stauffer D, Brunner S, Leppert MF. Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy. Neuromuscul Disord. 2001;11(6–7):525–9.

    Article  PubMed  CAS  Google Scholar 

  2. Padberg GW. Facioscapulohumeral disease. Leiden: University of Leiden; 1982.

    Google Scholar 

  3. Wijmenga C, Sandkuijl LA, Moerer P, et al. Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qter. Am J Hum Genet. 1992;51(2):411–5.

    PubMed  CAS  Google Scholar 

  4. van Deutekom JC, Wijmenga C, van Tienhoven EA, et al. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet. 1993;2(12):2037–42.

    Article  PubMed  Google Scholar 

  5. Lemmers RJ, van der Vliet PJ, Klooster R, et al. A unifying genetic model for facioscapulohumeral muscular dystrophy. Science. 2010;329(5999):1650–3.

    Article  PubMed  CAS  Google Scholar 

  6. Gabriels J, Beckers MC, Ding H, et al. Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element. Gene. 1999;236(1):25–32.

    Article  PubMed  CAS  Google Scholar 

  7. van der Maarel SM, Tawil R, Tapscott SJ. Facioscapulohumeral muscular dystrophy and DUX4: Breaking the silence. Trends Mol Med. 2011;17(5):252–8.

    Article  PubMed  Google Scholar 

  8. van der Maarel SM, Frants RR, Padberg GW. Facioscapulohumeral muscular dystrophy. Biochim Biophys Acta. 2007;1772(2):186–94.

    Article  PubMed  Google Scholar 

  9. Lemmers RJ, de Kievit P, Sandkuijl L, et al. Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere. Nat Genet. 2002;32(2):235–6.

    Article  PubMed  CAS  Google Scholar 

  10. Kowaljow V, Marcowycz A, Ansseau E, et al. The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. Neuromuscul Disord. 2007;17(8):611–23.

    Article  PubMed  Google Scholar 

  11. Snider L, Asawachaicharn A, Tyler AE, et al. RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: New candidates for the pathophysiology of facioscapulohumeral dystrophy. Hum Mol Genet. 2009;18(13):2414–30.

    Article  PubMed  CAS  Google Scholar 

  12. Bosnakovski D, Xu Z, Gang EJ, et al. An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies. EMBO J. 2008;27(20):2766–79.

    Article  PubMed  CAS  Google Scholar 

  13. de Greef JC, Lemmers RJ, Camano P, et al. Clinical features of facioscapulohumeral muscular dystrophy 2. Neurology. 2010;75(17):1548–54.

    Article  PubMed  Google Scholar 

  14. de Greef JC, Lemmers RJ, van Engelen BG, et al. Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD. Hum Mutat. 2009;30(10):1449–59.

    Article  PubMed  Google Scholar 

  15. Zeng W, de Greef JC, Chen YY, et al. Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD). PLoS Genet. 2009;5(7):e1000559.

    Article  PubMed  Google Scholar 

  16. van Overveld PG, Lemmers RJ, Sandkuijl LA, et al. Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat Genet. 2003;35(4):315–7.

    Article  PubMed  Google Scholar 

  17. Snider L, Geng LN, Lemmers RJ, et al. Facioscapulohumeral dystrophy: Incomplete suppression of a retrotransposed gene. PLoS Genet. 2010;6(10):e1001181.

    Article  PubMed  Google Scholar 

  18. FSH-DY Group. A prospective, quantitative study of the natural history of facioscapulohumeral muscular dystrophy (FSHD): Implications for therapeutic trials. The FSH-DY Group. Neurology. 1997;48(1):38–46.

    Article  Google Scholar 

  19. Awerbuch GI, Nigro MA, Wishnow R. Beevor’s sign and facioscapulohumeral dystrophy. Arch Neurol. 1990;47(11):1208–9.

    Article  PubMed  CAS  Google Scholar 

  20. Brouwer OF, Padberg GW, Ruys CJ, Brand R, de Laat JA, Grote JJ. Hearing loss in facioscapulohumeral muscular dystrophy. Neurology. 1991;41(12):1878–81.

    Article  PubMed  CAS  Google Scholar 

  21. Fitzsimons RB, Gurwin EB, Bird AC. Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy. A general association with genetic and therapeutic implications. Brain. 1987;110(Pt 3):631–48.

    Article  PubMed  Google Scholar 

  22. Desai UR, Sabates FN. Long-term follow-up of facioscapulohumeral muscular dystrophy and coats’ disease. Am J Ophthalmol. 1990;110(5):568–9.

    PubMed  CAS  Google Scholar 

  23. Pauleikhoff D, Bornfeld N, Bird AC, Wessing A. Severe visual loss associated with retinal telangiectasis and facioscapulohumeral muscular dystrophy. Graefes Arch Clin Exp Ophthalmol. 1992;230(4):362–5.

    Article  PubMed  CAS  Google Scholar 

  24. Stevenson WG, Perloff JK, Weiss JN, Anderson TL. Facioscapulohumeral muscular dystrophy: Evidence for selective, genetic electrophysiologic cardiac involvement. J Am Coll Cardiol. 1990;15(2):292–9.

    Article  PubMed  CAS  Google Scholar 

  25. Shields CL, Zahler J, Falk N, et al. Neovascular glaucoma from advanced coats disease as the initial manifestation of facioscapulohumeral dystrophy in a 2-year-old child. Arch Ophthalmol. 2007;125(6):840–2.

    Article  PubMed  Google Scholar 

  26. Laforet P, de Toma C, Eymard B, et al. Cardiac involvement in genetically confirmed facioscapulohumeral muscular dystrophy. Neurology. 1998;51(5):1454–6.

    Article  PubMed  CAS  Google Scholar 

  27. Wohlgemuth M, van der Kooi EL, van Kesteren RG, van der Maarel SM, Padberg GW. Ventilatory support in facioscapulohumeral muscular dystrophy. Neurology. 2004;63(1):176–8.

    Article  PubMed  CAS  Google Scholar 

  28. Stubgen JP, Schultz C. Lung and respiratory muscle function in facioscapulohumeral muscular dystrophy. Muscle Nerve. 2009;39(6):729–34.

    Article  PubMed  Google Scholar 

  29. Funakoshi M, Goto K, Arahata K. Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy. Neurology. 1998;50(6):1791–4.

    Article  PubMed  CAS  Google Scholar 

  30. Hobson-Webb LD, Caress JB. Facioscapulohumeral muscular dystrophy can be a cause of isolated childhood cognitive dysfunction. J Child Neurol. 2006;21(3):252–3.

    PubMed  Google Scholar 

  31. Grosso S, Mostardini R, Di Bartolo RM, Balestri P, Verrotti A. Epilepsy, speech delay, and mental retardation in facioscapulohumeral muscular dystrophy. Eur J Paediatr Neurol. 2011;15(5):456–60.

    Article  PubMed  Google Scholar 

  32. Tawil R, van der Maarel S, Padberg GW, van Engelen BG. 171st ENMC international workshop: Standards of care and management of facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2010;20(7):471–5.

    Article  PubMed  Google Scholar 

  33. Ricci E, Galluzzi G, Deidda G, et al. Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype. Ann Neurol. 1999;45(6):751–7.

    Article  PubMed  CAS  Google Scholar 

  34. Orrell RW, Tawil R, Forrester J, Kissel JT, Mendell JR, Figlewicz DA. Definitive molecular diagnosis of facioscapulohumeral dystrophy. Neurology. 1999;52(9):1822–6.

    Article  PubMed  CAS  Google Scholar 

  35. Lemmers RJ, O’Shea S, Padberg GW, Lunt PW, van der Maarel SM. Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Workshop 9th June 2010, LUMC, Leiden, The Netherlands. Neuromuscul Disord. 2011. doi:10.1016/j.nmd.2011.09.004.

    Google Scholar 

  36. Orrell RW, Copeland S, Rose MR. Scapular fixation in muscular dystrophy. Cochrane Database Syst Rev. 2010;(1):CD003278.

    Google Scholar 

  37. Ciafaloni E, Pressman EK, Loi AM, et al. Pregnancy and birth outcomes in women with facioscapulohumeral muscular dystrophy. Neurology. 2006;67(10):1887–9.

    Article  PubMed  CAS  Google Scholar 

  38. Rudnik-Schoneborn S, Glauner B, Rohrig D, Zerres K. Obstetric aspects in women with facioscapulohumeral muscular dystrophy, limb-girdle muscular dystrophy, and congenital myopathies. Arch Neurol. 1997;54(7):888–94.

    Article  PubMed  CAS  Google Scholar 

  39. van der Kooi EL, Vogels OJ, van Asseldonk RJ, et al. Strength training and albuterol in facioscapulohumeral muscular dystrophy. Neurology. 2004;63(4):702–8.

    Article  PubMed  Google Scholar 

  40. Olsen DB, Orngreen MC, Vissing J. Aerobic training improves exercise performance in facioscapulohumeral muscular dystrophy. Neurology. 2005;64(6):1064–6.

    Article  PubMed  Google Scholar 

  41. Tawil R, McDermott MP, Pandya S, et al. A pilot trial of prednisone in facioscapulohumeral muscular dystrophy. FSH-DY Group. Neurology. 1997;48(1):46–9.

    Article  PubMed  CAS  Google Scholar 

  42. Kissel JT, McDermott MP, Mendell JR, et al. Randomized, double-blind, placebo-controlled trial of albuterol in facioscapulohumeral dystrophy. Neurology. 2001;57(8):1434–40.

    Article  PubMed  CAS  Google Scholar 

  43. Elsheikh BH, Bollman E, Peruggia M, King W, Galloway G, Kissel JT. Pilot trial of diltiazem in facioscapulohumeral muscular dystrophy. Neurology. 2007;68(17):1428–9.

    Article  PubMed  CAS  Google Scholar 

  44. Payan CA, Hogrel JY, Hammouda EH, et al. Periodic salbutamol in facioscapulohumeral muscular dystrophy: A randomized controlled trial. Arch Phys Med Rehabil. 2009;90(7):1094–101.

    Article  PubMed  CAS  Google Scholar 

  45. Wagner KR, Fleckenstein JL, Amato AA, et al. A phase I/II trial of MYO-029 in adult subjects with muscular dystrophy. Ann Neurol. 2008;63(5):561–71.

    Article  PubMed  CAS  Google Scholar 

  46. Zatz M, Marie SK, Passos-Bueno MR, et al. High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families. Am J Hum Genet. 1995;56(1):99–105.

    PubMed  CAS  Google Scholar 

  47. Griggs RC, Tawil R, McDermott M, Forrester J, Figlewicz D, Weiffenbach B, FSH-DY Group. Monozygotic twins with facioscapulohumeral dystrophy (FSHD): Implications for genotype/phenotype correlation. Muscle Nerve. 1995; Suppl 18:S50–S55.

    Google Scholar 

  48. Tawil R, Griggs RC. Facioscapulohumeral muscular dystrophy. In: Rosenberg RN, Prusiner S, DiMauro S, Barchi RL, editors. The molecular and genetic basis of neurological disease. 2nd ed. Oxford: Butterworth-Heinemann; 1997. p. 933. Chapter 52.

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Rabi Tawil MD .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2014 Springer Science+Business Media New York

About this chapter

Cite this chapter

Tawil, R. (2014). Facioscapulohumeral Muscular Dystrophy. In: Katirji, B., Kaminski, H., Ruff, R. (eds) Neuromuscular Disorders in Clinical Practice. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6567-6_58

Download citation

  • DOI: https://doi.org/10.1007/978-1-4614-6567-6_58

  • Published:

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4614-6566-9

  • Online ISBN: 978-1-4614-6567-6

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics