ORPHA:139485
Autosomal recessive ataxia due to ubiquinone deficiency
Also called ARCA2, Autosomal recessive ataxia due to coenzyme Q10 deficiency, Autosomal recessive cerebellar ataxia type 2, Autosomal recessive spinocerebellar ataxia type 9, SCAR9
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Childhood
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:139485 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Cerebellar atrophy
- Progressive cerebellar ataxia
- Hypotonia
- Brisk reflexes
- Intellectual disability, moderate
- Developmental regression