CLN7 disease

Definition

A rare neuronal ceroid lipofuscinosis characterized by epilepsy with myoclonic, atonic, and bilateral tonic-clonic seizures, gait disturbance, and language difficulty/delay. Progressive motor and cognitive decline, personality disorders, myoclonus and visual loss are common clinical features become evident later in the disease progress. Age of onset is typically late-infantile, however few juvenile-onset patients are reported.