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Spinocerebellar ataxia with epilepsy

Disease definition

Spinocerebellar ataxia with epilepsy is a rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate.

ORPHA:254881

Classification level: Disorder
  • Synonym(s):
    • MSCAE
    • Mitochondrial spinocerebellar ataxia with epilepsy
    • SCAE
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Childhood
  • ICD-10: -
  • OMIM: 607459
  • UMLS: C1843851  C1843852
  • MeSH: -
  • GARD: -
  • MedDRA: -

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