Conditions / Genetic
primary coenzyme Q10 deficiency 9
info · Genetic
A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in the COQ5 gene on chromosome 12q24.31.
Signs and symptoms
- Encephalopathy
- Impaired tandem gait
- Global developmental delay
- Ataxia
- Bilateral tonic-clonic seizure with generalized onset
- Type 2 muscle fiber predominance
- Horizontal nystagmus
- Dysmetria
- Cerebellar atrophy
- Brisk reflexes
Also known as: COQ10D9