GTR Home > Conditions/Phenotypes > Spinocerebellar ataxia 2

Disease characteristics

Excerpted from the GeneReview: Hereditary Ataxia Overview
The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. In this GeneReview the hereditary ataxias are categorized by mode of inheritance and gene (or chromosomal locus) in which pathogenic variants occur.

Associated genes

Clinical features

  • Hyporeflexia
  • Dysmetria
  • Slow saccadic eye movements
  • Dysmetric saccades
  • Dysarthria
  • Urinary bladder sphincter dysfunction
  • Postural instability
  • Dilated fourth ventricle
  • Dysphagia
  • Progressive cerebellar ataxia
  • Impaired horizontal smooth pursuit
  • Retinitis pigmentosa
  • Ophthalmoplegia
  • Gaze-evoked nystagmus
  • Oculomotor apraxia
  • Dementia
  • Muscular hypotonia
  • Spasticity
  • Myoclonus
  • Rigidity
  • Bradykinesia
  • Limb ataxia
  • Dysdiadochokinesis
  • Postural tremor
  • Fasciculations
  • Impaired vibratory sensation
  • Spinocerebellar tract degeneration
  • Olivopontocerebellar atrophy
  • Distal amyotrophy
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