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Friedreich Ataxia (FA)

Friedreich Ataxia (FA)

It is a genetic neuromuscular disease, which is inherited by an autosomal recessive pattern or caused by a de novo mutation and is characterized by spinal-cerebellar degeneration. Individuals with FA have a mutation that leads to reduced production of the protein frataxin, which is important for the function of the 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.

 

Symptoms

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

 

Diagnosis can be performed by genetic testing.

 

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

 

Investigations and clinical trials are conducted and for more details visit the following websites:

www.ataxia.org,

www.curefa.org

http://www.e-facts.eu/html/studies/home

 https://www.centerwatch.com/clinical-trials/listings/condition/829/fried... https://clinicaltrials.gov/ct2/home

 

To contact the World Parents' FA Organization:

www.faparents.org

 

References

  • Muscular Dystrophy Canada, Friedreich’s Ataxia, http://www.muscle.ca/about-muscular-dystrophy/types-of-neuromuscular-disorders/friedreichs-ataxia/.
  • Background, Pathophysiology, Epidemiology, Friedreich Ataxia, July 19, 2017,  http://emedicine.medscape.com/article/1150420-overview.
  • U.S. National Library of Medicine, Friedreich ataxia - Genetics Home Reference, https://ghr.nlm.nih.gov/condition/friedreich-ataxia.
  • National Institute of Neurological Disorders and Stroke, Friedreich's Ataxia Fact Sheet, https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Friedreichs-Ataxia-Fact-Sheet.
  • NORD (National Organization for Rare Disorders), Friedreich's Ataxia, https://rarediseases.org/rare-diseases/friedreichs-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. 

 

Muscular Dystrophy Association