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Results 1 - 7 of 7 for Friedreich ataxia 1
  1. ... spinocerebellar ataxia Friedrich's ataxia Genetic Testing Registry: Friedreich ataxia 1 Friedreich ataxia National Organization for Rare Disorders (NORD) ...
  2. ... axonal neuropathy type 2 Spinocerebellar ataxia, recessive, non-Friedreich type 1 Genetic Testing Registry: Ataxia - oculomotor apraxia type 4 Genetic Testing Registry: Ataxia ...
  3. ... 8 to 30 copies of GAA. People with Friedreich ataxia have as many as 1,000 copies. The more copies of GAA a person has, the earlier in life the disease starts and the faster ... ataxia is an autosomal recessive genetic disorder. This means ...
  4. fxn 
    ... PubMed Pandolfo M, Pastore A. The pathogenesis of Friedreich ataxia and the structure and function of frataxin. J Neurol. 2009 Mar;256 Suppl 1:9-17. doi: 10.1007/s00415-009-1003- ...
  5. ... deficiency AVED Familial isolated vitamin E deficiency FIVE Friedreich ataxia phenotype with selective vitamin E deficiency Friedreich-like ataxia Genetic Testing Registry: Familial isolated deficiency of vitamin ...
  6. ... Harino S, Kiyosawa M, Mizusawa H, Inoue K. Friedreich-like ataxia with retinitis pigmentosa caused by the His101Gln mutation ...
  7. ... Family Support Group Foundation for Prader-Willi Research Friedreich Ataxia Research Alliance Galactosemia Foundation Gaucher Community Alliance George ...