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Neurological Sciences

, Volume 40, Issue 1, pp 195–197 | Cite as

A case of facioscapulohumeral muscular dystrophy and myasthenia gravis with positivity of anti-Ach receptor antibody: a fortuitous association?

  • Enrica Filippelli
  • Stefania Barone
  • Alfredo Granata
  • Rita Nisticò
  • Paola Valentino
Letter to the Editor

Facioscapulohumeral dystrophy (FSHD) is the third most common form of muscular dystrophy (MD), after Duchenne muscular dystrophy and myotonic dystrophy, with a prevalence of approximately 1: 8.000–1:22.000 [1]. It is inherited mostly as an autosomal dominant disease; however, up to 30% of cases are sporadic, arising from de novo mutations. FSHD symptoms typically develop in the second decade of life but can begin at any age from infancy to late adulthood [2]. It presents clinically with asymmetric and slowly progressive weakness affecting the face, shoulder, and arms, followed by weakness of the distal lower extremities and pelvic girdle; typically, bulbar, extraocular, and respiratory muscles tend to be spared [3].

With an annual incidence of 8 to 10 cases per 1 million persons and a prevalence of 150 to 250 cases per 1 million, myasthenia gravis (MG) and its various subgroups are the major diseases that affect the neuromuscular junction. MG is an autoimmune disease in which...

Keywords

FSHD facioscapulohumeral muscular dystrophy MG myasthenia gravis AchR-abs antibodies to acetylcholine receptor RNS repetitive nerve stimulation SFEMG single-fiber elctromyography 

Notes

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflicts of interest.

Supplementary material

10072_2018_3554_MOESM1_ESM.mp4 (18.3 mb)
Video 1 (MP4 18699 kb)

References

  1. 1.
    Wang LH, Tawil R (2016) Facioscapulohumeral dystrophy. Curr Neurol Neurosci Rep 16:66CrossRefGoogle Scholar
  2. 2.
    Tawil R, Kissel JT, Heatwole C, Pandya S, Gronseth G, Benatar M (2015) Evidence-based guideline summary: evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy. Neurology 85:357–364CrossRefGoogle Scholar
  3. 3.
    Statland JM, Tawil R (2014) Facioscapulohumeral muscular dystrophy. Neurol Clin 32(3):721–729CrossRefGoogle Scholar
  4. 4.
    Gilhus NE (2016) Myasthenia gravis. N Engl J Med 375:2570–2581CrossRefGoogle Scholar
  5. 5.
    Asadollahi M, Rezaiyan B, Amjadi H (2012) A rare case of facioscapulohumeral muscular dystrophy and myasthenia gravis. Iran J Neurol 11(1):28–29PubMedPubMedCentralGoogle Scholar
  6. 6.
    Sansone V, Saperstein DS, Barohn RJ, Meola G (2004). Concurrence of facioscapulohumeral muscular dystrophy and myasthenia gravis. Muscle Nerve Nov 679–80Google Scholar
  7. 7.
    Lane RJM, Roncaroli F, Charles P, McGonagle DG, Orrell RW (2012) Acetylcholine receptor antibodies in patients with genetic myopathies: clinical and biological significance. Neuromuscul Disord 22:122–128CrossRefGoogle Scholar

Copyright information

© Springer-Verlag Italia S.r.l., part of Springer Nature 2018

Authors and Affiliations

  1. 1.Institute of NeurologyUniversity Magna Graecia of CatanzaroCatanzaroItaly
  2. 2.Institute of Molecular Bioimaging and PhysiologyNational Research CouncilCatanzaroItaly

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