primary coenzyme Q10 deficiency 4
ORPHA: 139485
Overview
primary coenzyme Q10 deficiency that has material basis in an autosomal recessive mutation of ADCK3 on chromosome 1q42.13
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 primary coenzyme Q10 deficiency 4, 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
Orphanet Code
ORPHA:139485primary coenzyme Q10 deficiency 4
| 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