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Spinocerebellar ataxia type 42

Disease definition

Spinocerebellar ataxia type 42 is a rare, autosomal dominant cerebellar ataxia characterized by pure and slowly progressive cerebellar signs combining gait instability, dysarthria, nystagmus, saccadic eye movements and diplopia. Less frequent clinical signs and symptoms include spasticity, hyperreflexia, decreased distal vibration sense, urinary urgency or incontinence and postural tremor.

ORPHA:458803

  • Synonym(s):
    • SCA42
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood, Adolescent, Adult, Elderly
  • ICD-10: G11.8
  • OMIM: 616795
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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