autosomal recessive ataxia due to ubiquinone deficiency
MeSH: C567436ORPHA: 139485
Overview
This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with autosomal recessive ataxia due to ubiquinone deficiency, sourced from HPO and Orphanet clinical annotations.
Cerebellar atrophyProgressive cerebellar ataxiaHypotoniaBrisk reflexesModerate intellectual disabilityDevelopmental regressionExercise intoleranceProximal muscle weaknessTalipes cavus equinovarusFocal T2 hypointense basal ganglia lesionStrabismusSeizureMyoclonusTremorHyperreflexiaIncreased circulating lactate concentrationIncreased CSF lactateLactic acidosisEMG abnormalityAbnormal pyramidal signNeurodevelopmental delayHearing impairmentGynecomastiaDystonia
Classification & Codes
MeSH Code
C567436Orphanet Code
ORPHA:139485autosomal recessive ataxia due to ubiquinone deficiency
| MeSH | C567436 |
| Orphanet | ORPHA:139485 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO