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Japanese

A case of Joseph disease Masatoshi Murata 1 , Issaku Suzuki 1 , Shigeki Takahashi 1 1Dept of Ophthalmol, Yamagata Univ Sch of Med pp.1257-1260
Published Date 1990/8/15
DOI https://doi.org/10.11477/mf.1410908237
  • Abstract
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Joseph disease is characterized as an autosomal dominant hereditary ataxia. The majority of patients are Portuguese and are descendants from Azores island. The condition has been reported in several Japanese pedigrees. We diagnosed a 58 -year-old male as Joseph disease.

Slowly progressive visual disturbance had been noted since 20 years before. His father, brother and sister were suffering from the same disease. Thepatient manifested limitation of vertical horizontal gaze and convergence insufficiency. Pallor of the optic disc and macular degeneration were present bilaterally. Systemically, he showed dysarthria, brisk deep tendon reflexes and ataxia. We could not ascertain whether the funuds manifestations were integral components of Joseph disease in this patient.


Copyright © 1990, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 1882-1308 印刷版ISSN 0370-5579 医学書院

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