autosomal recessive ataxia due to ubiquinone deficiency
Findings
No curated finding names autosomal recessive ataxia due to ubiquinone deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by childhood-onset progressive ataxia and cerebellar atrophy.
Definition from the Mondo Disease Ontology (MONDO:0012784), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
32 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AtaxiaHPOHP:0001251
- 2 of 2 reported patients
- Cerebellar atrophyHPOHP:0001272
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Epilepsia partialis continuaHPOHP:0012847
- 2 of 2 reported patients
- Increased intramyocellular lipid dropletsHPOHP:0012240
- 1 of 1 reported patient
- Progressive cerebellar ataxiaHPOHP:0002073
- Very frequent (80% to 99% of cases)
- Brisk reflexesHPOHP:0001348
- Frequent (30% to 79% of cases)
Show the remaining 20
- Talipes cavus equinovarusHPOHP:0004696
- Frequent (30% to 79% of cases)
- Axial hypotoniaHPOHP:0008936
- 1 of 2 reported patients
- Elevated lactate:pyruvate ratioHPOHP:0032653
- 1 of 2 reported patients
- Generalized tonic seizureHPOHP:0010818
- 1 of 2 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 1 of 2 reported patients
- Occasional (5% to 29% of cases)
- Increased CSF lactateHPOHP:0002490
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- COQ8AHGNC:16812
- Definitive · G2P · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: autosomal recessive ataxia due to ubiquinone deficiency
- Also called
- ARCA2autosomal recessive ataxia due to coenzyme Q10 deficiencyautosomal recessive cerebellar ataxia type 2autosomal recessive spinocerebellar ataxia type 9coenzyme Q10 deficiency, primary, type 4SCAR9