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Oculopharyngeal muscular dystrophy coexisting with myasthenia gravis
  1. Anca Loredana Alungulese,
  2. Miguel Angel García Soldevilla,
  3. Ricardo Gordo Mañas,
  4. Maria Belén Vidal Díaz
  1. Department of Neurology, Principe de Asturias University Hospital, Madrid, Spain
  1. Correspondence to Dr Anca Loredana Alungulese, Department of Neurology, Principe de Asturias University Hospital, Madrid 28805, Spain; ancaloredanaalungulese{at}gmail.com

Abstract

Oculopharyngeal muscular dystrophy (OPMD) and myasthenia gravis are both rare conditions of different pathophysiological nature, so a fortuitous association is unlikely. However, antiacetylcholine receptor antibodies may be found in other genetic myopathies and this is probably not coincidental. Muscle fibre degeneration can induce innate immune responses that may break immune tolerance and allow the generation of autoantibodies to muscle proteins. We report a patient with atypical OPMD who also had acetylcholine receptor antibody-mediated myasthenia gravis. This report raises awareness of the diagnostic and treatment implications of the association of myasthenia gravis with genetic myopathies.

  • MYASTHENIA
  • MYOPATHY
  • NEUROIMMUNOLOGY
  • NEUROGENETICS

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All data relevant to the study are included in the article or uploaded as supplementary information.

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Data availability statement

All data relevant to the study are included in the article or uploaded as supplementary information.

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Footnotes

  • Contributors ALA: Conception and design, drafting the article and final approval. MAGS, RGM and MBVD: Revised the manuscript for intellectual content and final approval.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally reviewed by Marguerite Hill, Swansea, UK.

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