Friedreich’s Ataxia

As professionals in the health and fitness industry it is vital we have a good understanding of some disorders and diseases which as personal trainers and in particular Rehabilitation Exercise Trainers we may come across and be able to assist. Let’s now look at Friedreich’s Ataxia. This disease is an inherited progressive disease that causes damage to the nervous system. This disease can affect 1 in 29,000 people. Symptoms can range from a change in someone’s gait, speech, spinal cord and can result in heart disease and also diabetes. In particular the disease is the degeneration of nerve tissue where the spinal cord can affect the sensory systems as well. The myelin sheath (covering the nerve cells) starts to become eroded causing these issues for those who are affected by this disease. Sadly genetics does play a role and this disease is inherited from the parents. 

This disorder can start as young as 5 to 15 years, but in others it may appear as a late onset seeing the disorder occur in those who are in their 20s and early 30s. Symptoms can include:

  • Hearing problems
  • Vision issues
  • Muscle weakness in the arms and legs
  • Loss of coordination
  • Slurred speech
  • Spine issues such as scoliosis
  • Foot deformities such as plantar arches
  • Fast heart rate
  • Diabetes
  • Cardiomyopathy

Long-term observation shows that many patients reach a plateau in symptoms in early adulthood.

As trainers, and in particular those who practice functional rehabilitation can assist their client by the following:

Stretching exercises and massage can be prescribed to help relieve tight musculature due to scoliosis deformities.

A prescribed exercise program tailored to maximize function and independence can assist. To address the ataxic gait pattern and loss of proprioceptors trainers can use visual cueing during gait training to help facilitate a more efficient pattern. The prescription of an assistive device along with gait training can also prolong independence.

Low intensity strengthening exercises should also be incorporated to maintain functional use of the upper and lower limbs. Fatigability should be monitored closely. Stabilization exercises of the trunk and low back can help with some postural issues. This is especially indicative if the person is non-ambulatory and requires the use of a wheelchair. Balance and coordination training using visual feedback can also be incorporated into activities of daily living. Exercises should be of a functional nature and the client taught things such as how to cook and transfer themselves from a wheel chair. While gait training is essential include balance and coordination training as well.

By
John Hart
“Master’s In Education” (Disability) Newcastle University Australia
“Grad Cert Education” Newcastle University Australia
“Diploma Fitness/Recreation”
“Cert 4 Personal Training”
“Level 1 Strength and Conditioning Coach

References

  1. ^ synd/1406 at Who Named It?
  2. ^ The Friedreich ataxia AAG triplet repeat: premutation and normal alleles L Montermini, E Andermann, M Labuda, A Richter, M Pandolfo, F Cavalcanti, L Pianese, L Iodice, G Farina, A Monticelli, M Turano, A Filla, G De Michele and S Cocozza. Human Molecular Genetics, Vol 6, 1261-1266
  3. ^ http://emedicine.medscape.com/article/1150420-overview
  4. ^ Delatycki M, Williamson R, Forrest S (2000). “Friedreich ataxia: an overview”. J Med Genet 37 (1): 1–8 As. doi:10.1136/jmg.37.1.1. PMC 1734457. PMID 10633128. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1734457
  5. ^ http://www.clinicaltrials.gov/ct2/results?term=idebenone+friedreich%27s+idebenone
  6. ^ Boesch S, Sturm B, Hering S, Goldenberg H, Poewe W, Scheiber-Mojdehkar B (November 2007). “Friedreich’s ataxia: clinical pilot trial with recombinant human erythropoietin”. Ann. Neurol. 62 (5): 521–4. doi:10.1002/ana.21177. PMID 17702040
  7. ^ Boesch S, Sturm B, Hering S, et al (October 2008). “Neurological effects of recombinant human erythropoietin in Friedreich’s ataxia: a clinical pilot trial”. Mov. Disord. 23 (13): 1940–4. doi:10.1002/mds.22294. PMID 18759345
  8. ^ a b c d e Powers, Wendy (2007-01-01). “Holding Steady: How physical therapy can help patients with Friedreich’s Ataxia”. Advance 18 (1): 26. http://www.fortnet.org/fapg/PTarticleFA.htm. Retrieved 2011-05-16. 
  9. ^ a b “Facts About Friedreich’s Ataxia (FA)”. Muscular Dystrophy Assocation. 2011. Archived on 2011-05-16. Error: If you specify |archivedate=, you must also specify |archiveurl=. http://www.mdausa.org/publications/fa-fried-qa.html. Retrieved 2011-05-16. 
  10. ^ Lodi R, Tonon C, Calabrese V, Schapira AH (2006). “Friedreich’s ataxia: from disease mechanisms to therapeutic interventions”. Antioxid. Redox Signal. 8 (3–4): 438–43. doi:10.1089/ars.2006.8.438. PMID 16677089
  11. ^ Barbeau A, Sadibelouiz M, Roy M, Lemieux B, Bouchard JP, Geoffroy G (1984). “Origin of Friedreich’s disease in Quebec”. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 11 (4 Suppl): 506–9. PMID 6391645
  12. ^ Friedreich N (1863). “Ueber degenerative Atrophie der spinalen Hinterstränge”. Arch Pathol Anat Phys Klin Med 26 (3–4): 391–419. doi:10.1007/BF01930976. http://www.springerlink.com/content/q604471402843464/
  13. ^ Friedreich N (1863). “Ueber degenerative Atrophie der spinalen Hinterstränge”. Arch Pathol Anat Phys Klin Med 26 (5–6): 433–459. doi:10.1007/BF01878006. http://www.springerlink.com/content/p7v1w77p78q1u141/
  14. ^ Friedreich N (1863). “Ueber degenerative Atrophie der spinalen Hinterstränge”. Arch Pathol Anat Phys Klin Med 27 (1–2): 1–26. doi:10.1007/BF01938516. http://www.springerlink.com/content/x24714576631690x/
  15. ^ Friedreich N (1876). “Ueber Ataxie mit besonderer Berücksichtigung der hereditären Formen” (PDF). Arch Pathol Anat Phys Klin Med 68 (2): 145–245. doi:10.1007/BF01879049. http://www.springerlink.com/content/x5q361w022042147/
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