Conditions / Genetic
primary coenzyme Q10 deficiency 4
info · Genetic
A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the ADCK3 gene on chromosome 1q42.13.
Signs and symptoms
- Cerebellar atrophy
- Seizure
- Ataxia
- Epilepsia partialis continua
- Increased intramyocellular lipid droplets
- Strabismus
- Hypotonia
- Elevated lactate:pyruvate ratio
- Proximal muscle weakness
- Exercise intolerance
Also known as: COQ10D4; SCAR9; coenzyme Q10 deficiency, primary, 4; spinocerebellar ataxia, autosomal recessive 9