Progressive myoclonic epilepsy type 3
Synonyms: CLN14 disease | EPM3 | PME type 3 | Progressive myoclonic epilepsy due to KCTD7 deficiency | Progressive myoclonus epilepsy type 3
A rare genetic neuronal ceroid lipofuscinosis disorder characterized by infantile- to early childhood-onset of progressive myoclonic seizures (occasionally accompanied by generalized tonic-clonic seizures) and severe progressive neurological regression leading to psychomotor and cognitive decline cerebellar ataxia dementia and frequently early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
Progressive myoclonic epilepsy type 3?
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For a list of clinical trials in this disease area, please click here.