title: Oculopharyngeal muscular dystrophy in Japan.
abstract: Oculopharyngeal muscular dystrophy (OPMD) in the European population has been frequently diagnosed, but except for one black family, the occurrence in other ethnic groups is uncertain. We identified two unrelated OPMD Japanese families, including 34 affected individuals. Major clinical manifestations were bilateral ptosis and dysphagia starting after age 40. Histologic studies of limb muscles revealed mild myogenic changes, occasional rimmed vacuoles, and small angulated fibers. By contrast, cricopharyngeal muscle showed a marked loss of fibers and massive proliferation of connective tissue. Intranuclear tubulofilamentous inclusions (ITFI) of 8.5 nm outer diameter were observed in 2-5% of the nuclei in four different biopsied muscles. One patient with recurrent aspirations underwent successful cricopharyngeal myotomy. Aerodynamic examination was useful to evaluate velopharyngeal closure function. Our investigations revealed that OPMD is a geographically widespread disorder, and ITFI may be the specific morphologic hallmark.
authors.affiliation: Department of Neurology, Kumamoto University School of Medicine, Japan.
authors.forename: E
authors.initials: E
authors.lastname: Uyama
authors.forename: O
authors.initials: O
authors.lastname: Nohira
authors.forename: F M
authors.initials: FM
authors.lastname: Tomé
authors.forename: D
authors.initials: D
authors.lastname: Chateau
authors.forename: M
authors.initials: M
authors.lastname: Tokunaga
authors.forename: M
authors.initials: M
authors.lastname: Ando
authors.forename: M
authors.initials: M
authors.lastname: Maki
authors.forename: T
authors.initials: T
authors.lastname: Okabe
authors.forename: M
authors.initials: M
authors.lastname: Uchino
mesh_terms: D001706:Biopsy; D001763:Blepharoptosis / Q000209:etiology / Q000235:genetics; D005192:Family Health; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology / Q000648:ultrastructure; D009136:Muscular Dystrophies / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000473:pathology; D009666:Nose / Q000502:physiology; D009801:Oculomotor Muscles; D010375:Pedigree; D010609:Pharyngeal Muscles; D010614:Pharynx / Q000000981:diagnostic imaging / Q000473:pathology; D011859:Radiography