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Infantile onset spinocerebellar ataxia

Disease definition

Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.

ORPHA:1186

  • Synonym(s):
    • IOSCA
    • Ohaha syndrome
    • Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: G11.1
  • OMIM: 271245
  • UMLS: C1849096
  • MeSH: C535523
  • GARD: 4062
  • MedDRA: -

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