Autosomal recessive cerebellar ataxia due to STUB1 deficiency
ORPHA:412057· ICD-10 G11.1
Definition
A rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood