title: Oculopharyngeal muscular dystrophy in Italy.
abstract: Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant myopathy particularly frequent in Québec. 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.
authors.affiliation: Division of Neurology I, University of Milan, San Donato Hospital, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Meola
authors.forename: V
authors.initials: V
authors.lastname: Sansone
authors.forename: G
authors.initials: G
authors.lastname: Rotondo
authors.forename: F M
authors.initials: FM
authors.lastname: Tomé
authors.forename: J P
authors.initials: JP
authors.lastname: Bouchard
mesh_terms: D000368:Aged; D001706:Biopsy; D001763:Blepharoptosis / Q000209:etiology; D003680:Deglutition Disorders / Q000209:etiology; D005192:Family Health; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology / Q000648:ultrastructure; D007558:Italy / Q000453:epidemiology; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000150:complications / Q000453:epidemiology* / Q000235:genetics*; D009801:Oculomotor Muscles; D010375:Pedigree; D010609:Pharyngeal Muscles; D012508:Sarcolemma / Q000473:pathology / Q000648:ultrastructure