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Autosomal recessive cerebellar ataxia due to STUB1 deficiency

Disease 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.

ORPHA:412057

Classification level: Disorder
  • Synonym(s):
    • SCAR16
    • Spinocerebellar ataxia autosomal recessive type 16
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: G11.1
  • OMIM: 615768
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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