Oculopharyngeal muscular dystrophy in Italy

Giovanni Meola, Valeria Sansone, Giuseppe Rotondo, Fernando M S Tomé, J. P. Bouchard

Research output: Contribution to journalArticle

Abstract

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant myopathy particularly frequent in Quebec. The few Italian cases thus far described with bilateral ptosis, dysphagia and variable muscle weakness, show non-specific dystrophic findings on muscle biopsies by light microscopy. We describe a 70-year-old Italian woman with an adult-onset ptosis, mild dysphagia and proximal muscle weakness belonging to a family segregating OPMD according to an autosomal dominant mode of inheritance. Clinical features of four of her relatives are reviewed. Muscle biopsy studied by electron microscopy showed the typical 8.5 nm in diameter intranuclear filamentous inclusions (INI). To our knowledge, this is the first Italian report of OPMD with INI. The identification of nuclear inclusions is mandatory in order to confirm the diagnosis prior to linkage analysis.

Original languageEnglish
JournalNeuromuscular Disorders
Volume7
Issue numberSUPPL. 1
DOIs
Publication statusPublished - Oct 1997

Keywords

  • Dysphagia
  • Epidemiology
  • Intranuclear inclusions
  • Oculopharyngeal muscular dystrophy
  • Ptosis

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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    Meola, G., Sansone, V., Rotondo, G., Tomé, F. M. S., & Bouchard, J. P. (1997). Oculopharyngeal muscular dystrophy in Italy. Neuromuscular Disorders, 7(SUPPL. 1). https://doi.org/10.1016/S0960-8966(97)00083-7