Autosomal dominant dopa-responsive dystonia
ORPHA:98808· ICD-10 G24.1
Definition
A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Childhood