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cherry-red spot myoclonus syndrome


Definition: a neuronal storage disorder in children characterized by a cherry-red spot at the macula, progressive myoclonus, and easily controlled seizures; the result of sialidase deficiency. Type I is characterized by normal body habitus, cherry-red macula, myoclonus, and normal ß-galactosidase levels; type II by short stature, bony abnormalities, and deficient ß-galactosidase.

Synonym(s): sialidosis

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.