Conditions / Genetic
ataxia-oculomotor apraxia 4
info · Genetic
An autosomal recessive cerebellar ataxia that is characterized by onset of dystonia and ataxia in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13.
Signs and symptoms
- Cerebellar atrophy
- Areflexia
- Ataxia
- Oculomotor apraxia
- Peripheral neuropathy
- Dystonia
- Impaired vibratory sensation
- Cognitive impairment
- Hypoalbuminemia
- Hypercholesterolemia