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Spinocerebellar ataxia type 43

Disease definition

Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.

ORPHA:497764

Classification level: Disorder
  • Synonym(s):
    • SCA43
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult, Elderly
  • ICD-10: -
  • OMIM: 617017
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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