Rare Zebra

Rare disease search prototype built on Orphanet data

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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