|cherry-red spot myoclonus syndrome||medical dictionary|
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.
(05 Mar 2000)
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