CLN4 disease
ORPHA:228343· ICD-10 E75.4
Definition
A rare neuronal ceroid lipofuscinosis characterized by adult-onset (20-early 30 years) progressive generalized tonic-clonic and myoclonic seizures, speech deterioration, dementia and ataxia. Some patients may also exhibit Parkinsonism. Visual impairment is usually not present. This is the only ceroid lipofuscinosis form inherited dominantly.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Adult