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Oculopharyngeal muscular dystrophy and distal myopathy

1982; Wiley; Volume: 65; Issue: 5 Linguagem: Inglês

10.1111/j.1600-0404.1982.tb03103.x

1600-0404

Nobuyoshi Fukuhara, Toshihide Kumamoto, T Tsubaki, Toshio Mayuzumi, Hatsumi Nitta,

Muscle Physiology and Disorders

Acta Neurologica ScandinavicaVolume 65, Issue 5 p. 458-467 Oculopharyngeal muscular dystrophy and distal myopathy INTRAFAMILIAL DIFFERENCE IN THE ONSET AND DISTRIBUTION OF MUSCULAR INVOLVEMENT Nobuyoshi Fukuhara M.D., Corresponding Author Nobuyoshi Fukuhara M.D. Department of Neurology, Brain Research Institute, Niigata University, and Hamagumi Children's Hospital, Niigata, JapanDepartment of Neurology Brain Research Institute Niigata University Niigata 951 JapanSearch for more papers by this authorToshihide Kumamoto, Toshihide Kumamoto Department of Neurology, Brain Research Institute, Niigata University, and Hamagumi Children's Hospital, Niigata, JapanSearch for more papers by this authorTadao Tsubaki, Tadao Tsubaki Department of Neurology, Brain Research Institute, Niigata University, and Hamagumi Children's Hospital, Niigata, JapanSearch for more papers by this authorToshio Mayuzumi, Toshio Mayuzumi Department of Neurology, Brain Research Institute, Niigata University, and Hamagumi Children's Hospital, Niigata, JapanSearch for more papers by this authorHatsumi Nitta, Hatsumi Nitta Department of Neurology, Brain Research Institute, Niigata University, and Hamagumi Children's Hospital, Niigata, JapanSearch for more papers by this author Nobuyoshi Fukuhara M.D., Corresponding Author Nobuyoshi Fukuhara M.D. Department of Neurology, Brain Research Institute, Niigata University, and Hamagumi Children's Hospital, Niigata, JapanDepartment of Neurology Brain Research Institute Niigata University Niigata 951 JapanSearch for more papers by this authorToshihide Kumamoto, Toshihide Kumamoto Department of Neurology, Brain Research Institute, Niigata University, and Hamagumi Children's Hospital, Niigata, JapanSearch for more papers by this authorTadao Tsubaki, Tadao Tsubaki Department of Neurology, Brain Research Institute, Niigata University, and Hamagumi Children's Hospital, Niigata, JapanSearch for more papers by this authorToshio Mayuzumi, Toshio Mayuzumi Department of Neurology, Brain Research Institute, Niigata University, and Hamagumi Children's Hospital, Niigata, JapanSearch for more papers by this authorHatsumi Nitta, Hatsumi Nitta Department of Neurology, Brain Research Institute, Niigata University, and Hamagumi Children's Hospital, Niigata, JapanSearch for more papers by this author First published: May 1982 https://doi.org/10.1111/j.1600-0404.1982.tb03103.xCitations: 30AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Abstract A family is reported which included a patient with a variant form of oculopharyngeal muscular dystrophy. The patient's son suffered from infantile muscular dystrophy with a distal distribution in the lower extremities and no oculopharyngeal symptoms. Case 1, the father, showed blepharoptosis, but no limitation of ocular movements. Case 2, the son, showed early onset of weakness and more rapid progression of muscle involvement than the father. In both patients EMG, muscle biopsies and elevated serum CPK indicated the myopathic nature of the disorder. A muscle biopsy specimen in Case 2 showed abundant rimmed vacuoles and abnormal filaments 13–19 nm in diameter in the sarcoplasm, usually reported to occur in inclusion body myositis. The findings indicate that oculopharyngeal muscular dystrophy and distal myopathy are related in their etiology and distal myopathy and inclusion body myositis are regarded as variant forms of the same disease. Citing Literature Volume65, Issue5May 1982Pages 458-467 RelatedInformation