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Shy-Gonatas syndrome
Associated persons:
Nicholas K. Gonatas
George Milton Shy
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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