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Oculopharyngeal myopathy with sensorineural hearing loss

Published online by Cambridge University Press:  29 June 2007

G. H. Alusi ,
W. E. Grant  and
R. E. Quiney
G. H. Alusi*
Affiliation:
Department of Otolaryngology and Head and Neck Surgery, Royal Free Hospital, Pond Street, London, UK.
W. E. Grant
Affiliation:
Department of Otolaryngology and Head and Neck Surgery, Royal Free Hospital, Pond Street, London, UK.
R. E. Quiney
Affiliation:
Department of Otolaryngology and Head and Neck Surgery, Royal Free Hospital, Pond Street, London, UK.
*
Address for correspondence: G. H. Alusi, Department of Otolaryngology and Head and Neck Surgery, Royal Free Hospital, Pond Street, Hampstead, London NW3 2QG.
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Abstract

A Case Is reported of a 59-year-old Caucasian male with oculopharyngeal myopathy and sensorineural hearing loss. He presented with progressive ptosis, sensorineural hearing loss over several years and symptoms of mild dysphagia. Further enquiry into his family history revealed that every male member in his family that lived beyond the age of 60 exhibited identical symptoms. Symptoms of ptosis and dysphagia are consistent with the rare autosomal dominant condition of oculopharyngeal myopathy, believed to be due to mitochondrial disease. The combination of ptosis, dysphagia and sensorineural hearing loss with normal distant muscle group biopsy has not been described before.

Keywords

Hearing losssensorineuralMyopathyoculopharyngeal
Type
Clinical Records
Information
The Journal of Laryngology & Otology , Volume 110 , Issue 6 , June 1996 , pp. 567 - 569
Copyright
Copyright © JLO (1984) Limited 1996

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References

Barbeau, A. (1966) The syndrome of hereditary late onset ptosis and dysphagia in French-Canada. In Symposium ueber progressive Muskeldystrophie, Myotonie Myasthenie. (Kuhn, E., ed.), Springer-Verlag, Berlin, pp 102–109.CrossRefGoogle Scholar
Baraister, M. (1990) The Genetics of Neurological Disorders. 2nd Edition, Oxford University Press, Oxford, pp 376–379.Google Scholar
Knoblauch, A., Koppel, M. (1984) Die okulopharyngeale Muskeldystrophie. Schweizerische Medizinische Wochenschrift 114: 557–561.Google Scholar
McKusick, A. (1988) Mendelian Inheritance in Man. In Catalogues of Autosomal Dominant, Autosomal Recessive and X-linked Phenotypes. 8th Edition, John Hopkins University Press, pp 536–537.Google Scholar
Morgan-Hughes, J. A., Mair, W. G. P. (1973) Atypical muscle mitochondria in oculoskeletal myopathy. Brain 96: 215–224.CrossRefGoogle ScholarPubMed
Nishizawa, M., Tanaka, K., Shinozawa, K., Kuwabara, T., Atsumi, T., Miyatake, T., Ohama, E. (1987) A mitochondrial encephalomyopathy with cardiomyopathy. A case revealing a defect of complex I in the respiratory chain. Journal of Neurological Science 78(2): 189–201.CrossRefGoogle ScholarPubMed
Taylor, E. W. (1915) Progressive vagus-glossopharyngeal paralysis with ptosis. Contribution to group of family diseases. Journal of Nervous and Mental Disease 42: 129–139.CrossRefGoogle Scholar
Victor, M., Hayes, R., Adams, R. D. (1962) Oculopharyngeal muscular dystrophy. A familial disease of late life characterized by dysphagia and progressive ptosis of the eyelids. New England Journal of Medicine 267: 1267–1272.CrossRefGoogle Scholar