Article Text

other Versions

PDF
Oculopharyngeal myopathy with inflammation and calcinosis: an unusual phenotype
  1. Thomas Jenkins (tomjenkins18{at}hotmail.com)
  1. Kings College Hospital, London, United Kingdom
    1. Safa Al-Sarraj (safa.al-sarraj{at}kingsch.nhs.uk)
    1. Kings College Hospital, London, United Kingdom
      1. Michael Rose (m.r.rose{at}kcl.ac.uk)
      1. Kings College Hospital, London, United Kingdom

        Abstract

        We report a patient with progressive proximal and distal weakness, dysphagia, respiratory weakness, subcutaneous calcifications, ptosis and ophthalmoparesis with inflammation, rimmed vacuoles and positive amyloid and ubiquitin on muscle biopsy. The histopathological features fit best with inclusion body myositis but ophthalmoparesis and ptosis have not been described in that disorder. The clinical phenotype fits best with hereditary inclusion body myopathy or distal-oculopharyngeal muscular dystrophy but the degree of inflammation seen is unusual. None of these are associated with calcinosis. We present this as an unusual phenotype for any vacuolar myopathy and as a challenge to the current diagnostic criteria for sporadic inclusion body myositis.

        • Inclusion body myositis
        • Ophthalmoparesis
        • Ptosis

        Statistics from Altmetric.com

        Request permissions

        If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.