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Ataxia-oculomotor apraxia type 4

Disease definition

A rare autosomal recessive cerebellar ataxia characterized by onset of dystonia and other extrapyramidal signs, ataxia, oculomotor apraxia, and progressive sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation, and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen.

ORPHA:459033

Classification level: Disorder
  • Synonym(s):
    • AOA4
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: G11.0
  • OMIM: 616267
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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