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Spectrin-associated autosomal recessive cerebellar ataxia

Disease definition

Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).

ORPHA:352403

Classification level: Disorder
  • Synonym(s):
    • Ataxie spinocérébelleuse à début infantile avec retard psychomoteur
    • Autosomal recessive spinocerebellar ataxia type 14
    • Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome
    • SCAR14
    • SPARCA
    • SPARCA1
    • Spectrin-associated autosomal recessive cerebellar ataxia type 1
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: G11.1
  • OMIM: 615386
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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