Autosomal recessive dopa-responsive dystonia
ORPHA:101150· ICD-10 G24.1
Definition
A very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal