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Cherry-red spot myoclonus syndrome

Cherry-red spot myoclonus syndrome

(Science: syndrome) a neuronal storage disorder in children characterised by a cherry red spot at the macula, progressive myoclonus, and easily controlled seizures; the result of sialidase deficiency. Type 1 is characterised by normal body habitus, cherry red macula, myoclonus, and normal beta-Galactosidase levels; type 2 by short stature, bony abnormalities, and deficient beta-Galactosidase.

Synonym: sialidosis.


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