CLN12 disease
ORPHA:314632· ICD-10 E75.4
Definition
A rare neuronal ceroid lipofuscinosis characterized by juvenile-onset (11-13 years) ataxia, unsteady gait, severe myoclonus and mood disturbance, progressing with clear extrapyramidal symptoms (including akinesia, rigidity and dysarthric speech) in 5 years following the diagnosis.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood