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Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome

Disease definition

A rare, genetic, autosomal recessive spastic ataxia disease characterized by onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy.

ORPHA:254343

  • Synonym(s):
    • Autosomal recessive spastic ataxia type 4
    • SPAX4
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G11.4
  • OMIM: 613672
  • UMLS: -
  • MeSH: -
  • GARD: 10992
  • MedDRA: -

Detailed information

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