- A dictionary of medical eponyms

Shy-Gonatas syndrome

Related people

Oculopharyngeal muscular dystrophy.

Description

A syndrome charcaterised by pharyngeal symptoms, weight loss up to starvation, weakness of proximal section of extremities, cerebellar ataxia, double vision and decreased acuity, and dementia. Other feature include gargoylism, absent reflexes, cardiac arrhythmias, proptosis, hypertelorism, and keratopathy. Onset in middle age, high variability among families where any one of the symptoms may be dominating. Inheritance is autosomal dominant

Bibliography

  • G. M. Shy, D. H. Silberberg, S. M. Appel, et al:
    A generalized disorder of the nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome. 1. Clinical, pathologic, and biochemichal characteristics.
    American Journal of Medicine, New York, 1967, 42: 163-169.
  • N. K. Gonatas:
    A generalized disorder of the nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome. II. Ultrastructure.
    American Journal of Medicine, New York, 1967, 42: 169-178.

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