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Infantile-onset autosomal recessive nonprogressive cerebellar ataxia

Disease definition

A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by nonprogressive cerebellar ataxia, with onset in infancy, manifesting with delayed motor and speech development, gait ataxia, dysmetria, hypotonia, increased deep tendon reflexes, and dysarthria. Additional variable manifestations include moderate nystagmus on lateral gaze, mild spasticity, intention tremor, short stature and pes planus. Brain imaging reveals cerebellar vermis atrophy.

ORPHA:284332

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive spinocerebellar ataxia type 6
    • SCAR6
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G11.0
  • OMIM: 608029
  • UMLS: C1842676
  • MeSH: -
  • GARD: 4954
  • MedDRA: -
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