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Friedreich ataxia

Disease definition

Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

ORPHA:95

  • Synonym(s):
    • FA
    • FRDA
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Adolescent
  • ICD-10: G11.1
  • OMIM: 229300  601992
  • UMLS: C0016719
  • MeSH: D005621
  • GARD: 6468
  • MedDRA: 10017374

Detailed information

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.