CLN8 sykdom

Definisjon

A rare neuronal ceroid lipofuscinosis characterized classically by late infantile-onset (5-10 years) with rapid disease progression, myoclonus, visual loss and progressive intellectual disability (commonly observed within 2-5 years of seizure onset). Spasticity, dystonic posturing, tremors, and other extrapyramidal signs are also reported in these patients. Less frequently, the disease can manifest with intractable tonic-clonic or complex partial seizures without myoclonous, progressive intellectual disability and variable visual deficit, blindness being infrequent. This condition, also known as Northern epilepsy, is milder and slow progressing compared to the classical form of the disease.