Friedreich Ataxia (FA)

It is a genetic neuromuscular disease, which is inherited by an autosomal recessive pattern or caused by de novo mutation and is characterized by spinal-cerebellar degeneration. Individuals with FA have a mutation that leads to reduced production of the frataxin protein, which is important for the function of mitochondria, which are the energy factories of the cells. In addition, neurons degenerate and are responsible for the symptoms. It occurs in 1: 40,000 people and its symptoms may occur between the ages 5-15 with rapid progression or later in adulthood.


  • Loss of leg and arm coordination.
  • Exhaustion.
  • Muscular loss.
  • Eye damage.
  • Deafness.
  • Incomplete speech.
  • Scoliosis.
  • Diabetes.
  • Heart problems (hypertrophic cardiomyopathy, arrhythmias).

Diagnosis can be performed by genetic test.

The treatment involves the individual management of the symptoms but treatment does not exist.

To be more specific it is suggested:

  1. Occupational therapy
  2. Hydrotherapy
  3. Physical therapy  – active / passive stretching, aerobic exercises, light lifts
  4. Speech therapy
  5. Standing frame
  6. Οrthotics (AFOs)
  7. wheelchair  on an annual basis in adults and bi-annually in children.
  8. canes
  9. special hearing aids
  10. ECG/cardio echo >once per year
  11. Polysomnography
  12. CPAP
  13. spine surgical correction – spine fusion
  14. Psychologic/ psychiatric support
  15. Neurologic drugs
  16. pain killers / muscle relaxants
  17. Ocular drugs
  18. Laxatives– enemas for proper rectal evacuation
  19. beta blockers/angiotensin inhibitors
  20. In case of  symptomatic heart failure – special therapeutic agents
  21. pacemaker – if needed
  22. Antiarrhythmics
  23. Αnticoagulation drugs
  24. Diuretics
  25. holter
  26. Μulti vitamin intake and antioxidants
  27. regular ferritin measurement
  28. Αntimuscarinic drugs
  29. Porkinetics for optimal bowel function
  30. Blood glucose at least once a year – insulin therapy in case of diabetes resistant to diet and exercise




Research and clinical trials are in process and for further information visit the following websites:,

To contact the Hellenic Friedreich’s Ataxia Association

To contact the World Parents’ FA Organization:


  • Muscular Dystrophy Canada, Friedreich’s Ataxia,
  • Background, Pathophysiology, Epidemiology, Friedreich Ataxia, July 19, 2017,
  • U.S. National Library of Medicine, Friedreich ataxia – Genetics Home Reference,
  • National Institute of Neurological Disorders and Stroke, Friedreich’s Ataxia Fact Sheet,
  • NORD (National Organization for Rare Disorders), Friedreich’s Ataxia,
  • K. Bürk,  Friedreich Ataxia: current status and future prospects, Cerebellum Ataxias. 2017, 7, 4, p. 4.
  • M.H. Parkinson, S. Boesch, W. Nachbauer, C. Mariotti, P. Giunti, Clinical features of Friedreich’s ataxia: classical and atypical phenotypes, J. Neurochem. 2013, 126, Suppl 1, p.103-117.
  • Saghazadeh, A., Hatizi, S, Hosseini, F., et al, Early- onset Friedreich’s ataxia with oculomotor apraxia, Acta Med. Iran, 2017, 55(2), pp. 128-130.
  • Weidemann, F., Liu, D., Hu, K., et al, The cardiomyopathy in Freidreich’s ataxia – new biomarker for staging cardiac involvement, Int. J. Cardiol., 2015, 194, pp. 50-57.
  • Selvadurai, L.P., Harding I.H., Corben, L.A., Georgiou-Karistianis, N., Cerebral abnormalities in Friedreich’s ataxia: a review, Neurosc. Biobehav. Rev., 2017, pp. 1-51.
  • McCormick, A., Farmer, J., Perlman, S., et al, Impact of diabetes in Friedreich ataxia clinical outcome measures study, Ann. Clin. Transl. Neur., 2017, 4(9), pp. 622-631.
  • Sayah, S., Rotge, J.Y., Francique, H., et al, Personality and neuropsychological profiles in Friedreich ataxia, Cerebellum, 2017.
  • Patel, M., Isaacs, C.J., Seyer, L., et al, Progression of Friedreich ataxia: quantitative characterization over 5 years, Ann. Clin. Trasl. Neur., 2016, 3(9), pp. 684-694.
  • Vasco, G., Gazzellini, S., Petrarca, M., et al, Functional and gait assessment in children and adolescents affected by Friedreich’s ataxia: a one-year longitudinal study, PLOS ONE, 2016, pp. 1-13.
  • Bodensteiner, J., Friedreich ataxia, Semin. Pediatr. Neurol, 2014, 21(2), pp. 72-75.
  • De Michele, G., Filla, A., Friedreich ataxia today-preparing for the final battle, Lancet Neurol., 2015, 14, pp. 174-182.
  • Zeigelboim, B.S., Mesti, J.C., Fonseca, V.R., et al, Otoneurological abnormalities in patients with Friedreich’s ataxia, Int. Arch. Otorhinolaryngol., 2017, 21, pp. 79-85.
  • Koeppen, A.H., Ramirez, R.L., Becker, A.B., et al, The pathogenesis of cardiomyopathy in Friedreich ataxia, PLOS ONE, 2015, 10(3), pp. 1-16.
  • Milne, S.C., Corben, L.A., et al, Gastrocnemius and soleus spasticity and muscle length in Friedreich’s ataxia, J. Clin. Neurosci., 2016, 29, pp.29-34.
  • Burk, K., Friedreich Ataxia: current status and future prospects, Cerebellum & Ataxias, 2017, 4(4), pp. 1-9.

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