Synonyms:
a.k.a. Baltic myoclonus
A form of progressive myoclonic epilepsy
Diagnosis:
Clinical features plus genetics
Clinical features:
Age 6-16, myoclonus, ataxia, dementia
Absence, atonic seizures may occur
Genetics:
Autosomal recessive
Chr. 21q
Pathology:
Affects cerebellum, thalamus, spinal cord
Neuronal loss, gliosis