cherry-red spot myoclonus syndrome


Also found in: Acronyms, Wikipedia.

cher·ry-red spot my·oc·lo·nus syn·drome

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 β-galactosidase levels; type II by short stature, bony abnormalities, and deficient β-galactosidase.
Synonym(s): sialidosis

cher·ry-red spot my·oc·lo·nus syn·drome

(cher'ē-red spot mī-ok'lō-nŭs sin'drōm)
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.
Synonym(s): sialidosis.