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Autosomal recessive cerebellar ataxia-psychomotor delay syndrome

Disease definition

A rare, hereditary, cerebellar ataxia disorder characterized by late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia, and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging.

ORPHA:284271

  • Synonym(s):
    • Autosomal recessive spinocerebellar ataxia type 11
    • SCAR11
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G11.1
  • OMIM: 614229
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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