Orthopedic Surgery for Friedreich Ataxia Follow-up

  • Author: Stephen Kishner, MD, MHA; Chief Editor: Harris Gellman, MD   more...
 
Updated: Aug 19, 2011
 

Further Inpatient Care

  • Supportive treatment should be provided.
Next

Deterrence/Prevention

  • Prenatal testing is clinically available for couples at a 25% risk of having a child with FA and in whom both disease-causing mutations are known.[30] DNA extracted from cells obtained from amniocentesis at 16-18 weeks of gestation or chorionic villus sampling at 9-11 weeks of gestation can be analyzed.
Previous
Next

Complications

  • Cardiac arrhythmias, angina, heart failure
  • Respiratory failure
  • Dysphagia
Previous
Next

Prognosis

  • The rate of progression of Friedreich ataxia (FA) is variable. The mean age of loss of ambulation is 25 years. Death usually occurs in the mid fourth decade of life. However, survival into the sixth and seventh decades of life has been documented. Death often is related to cardiomyopathy and diabetes, but aspiration pneumonia due to dysphagia also may shorten the lifespan of patients with FA.
Previous
Next

Patient Education

  • Patients and their parents must be provided with information on the nature, inheritance, and implications of the genetic disorder to help them make informed medical and personal decisions.
    • Friedreich ataxia (FA) is inherited in an autosomal recessive manner.
    • Parents of a child diagnosed with FA are both obligate carriers of an FXN gene mutation.
    • Siblings of patients with FA have a 25% risk of being affected.
    • Offspring of patients with FA all inherit one mutant allele from the affected parent. However, these children only have a risk of being affected if the unaffected parent is a carrier of a mutation in the FXN gene. The carrier status of the unaffected parent can be determined by DNA testing.
Previous
 
Contributor Information and Disclosures
Author

Stephen Kishner, MD, MHA  Professor of Clinical Medicine, Physical Medicine and Rehabilitation Residency Program Director, Louisiana State University School of Medicine in New Orleans

Stephen Kishner, MD, MHA is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation and American Association of Neuromuscular and Electrodiagnostic Medicine

Disclosure: Nothing to disclose.

Specialty Editor Board

Jegan Krishnan, MBBS, FRACS, PhD  Professor, Chair, Department of Orthopedic Surgery, Flinders University of South Australia; Senior Clinical Director of Orthopedic Surgery, Repatriation General Hospital; Private Practice, Orthopaedics SA, Flinders Private Hospital

Jegan Krishnan, MBBS, FRACS, PhD, is a member of the following medical societies: Australian Medical Association, Australian Orthopaedic Association, and Royal Australasian College of Surgeons

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Paul E Di Cesare, MD, FACS  Professor and Chair, Department of Orthopedic Sugery, University of California, Davis, School of Medicine

Paul E Di Cesare, MD, FACS is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American College of Surgeons, and Sigma Xi

Disclosure: Stryker Consulting fee Consulting

Dinesh Patel, MD, FACS  Associate Clinical Professor of Orthopedic Surgery, Harvard Medical School; Chief of Arthroscopic Surgery, Department of Orthopedic Surgery, Massachusetts General Hospital

Dinesh Patel, MD, FACS is a member of the following medical societies: American Academy of Orthopaedic Surgeons

Disclosure: Nothing to disclose.

Chief Editor

Harris Gellman, MD  Consulting Surgeon, Broward Hand Center; Voluntary Clinical Professor of Orthopedic Surgery and Plastic Surgery, Departments of Orthopedic Surgery and Surgery, University of Miami, Leonard M Miller School of Medicine

Harris Gellman, MD is a member of the following medical societies: American Academy of Medical Acupuncture, American Academy of Orthopaedic Surgeons, American Orthopaedic Association, American Society for Surgery of the Hand, and Arkansas Medical Society

Disclosure: Nothing to disclose.

Acknowledgments

Natalya V Bulaeva, MD, PhD, and John Baker, MD, are gratefully acknowledged for their contributions to this article.

References

  1. Pandolfo M. Friedreich ataxia. Arch Neurol. Oct 2008;65(10):1296-303. [Medline].

  2. Bidichandani SI, Patel PI, Ashizawa T. Friedreich Ataxia. Gene Clinics. 1998.

  3. Bradley JL, Blake JC, Chamberlain S, et al. Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia. Hum Mol Genet. Jan 22 2000;9(2):275-82. [Medline].

  4. Wells RD. DNA triplexes and Friedreich ataxia. FASEB J. Jun 2008;22(6):1625-34. [Medline].

  5. Evidente VG, Gwinn-Hardy KA, Caviness JN, Gilman S. Hereditary ataxias. Mayo Clin Proc. May 2000;75(5):475-90. [Medline].

  6. Kostrzewa M, Klockgether T, Damian MS, Muller U. Locus heterogeneity in Friedreich ataxia. Neurogenetics. May 1997;1(1):43-7. [Medline].

  7. Martin JB. Molecular basis of the neurodegenerative disorders. N Engl J Med. Jun 24 1999;340(25):1970-80. [Medline].

  8. Friedreich ataxia: genetics. National Library of Medicine. Available at http://ghr.nlm.nih.gov/condition=friedreichataxia. Accessed May 12, 2009.

  9. Puccio H, Koenig M. Recent advances in the molecular pathogenesis of Friedreich ataxia. Hum Mol Genet. Apr 12 2000;9(6):887-92. [Medline].

  10. Wood NW. Diagnosing Friedreich's ataxia. Arch Dis Child. Mar 1998;78(3):204-7. [Medline]. [Full Text].

  11. Pandolfo M. Drug Insight: antioxidant therapy in inherited ataxias. Nat Clin Pract Neurol. Feb 2008;4(2):86-96. [Medline].

  12. Tonon C, Lodi R. Idebenone in Friedreich's ataxia. Expert Opin Pharmacother. Sep 2008;9(13):2327-37. [Medline].

  13. Tsou AY, Friedman LS, Wilson RB, Lynch DR. Pharmacotherapy for Friedreich ataxia. CNS Drugs. 2009;23(3):213-23. [Medline].

  14. Study to Assess the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia (IONIA). ClinicalTrials.gov. Available at http://clinicaltrials.gov/ct2/show/NCT00537680. Accessed May 12, 2009.

  15. Idebenone to Treat Friedreich's Ataxia. ClinicalTrials.gov. Available at http://clinicaltrials.gov/ct2/show/NCT00229632. Accessed May 12, 2009.

  16. Schulz JB, Di Prospero NA, Fischbeck K. Clinical experience with high-dose idebenone in Friedreich ataxia. J Neurol. Mar 2009;256 Suppl 1:42-5. [Medline].

  17. Meier T, Buyse G. Idebenone: an emerging therapy for Friedreich ataxia. J Neurol. Mar 2009;256 Suppl 1:25-30. [Medline].

  18. Tonon C, Lodi R. Idebenone in Friedreich's ataxia. Expert Opin Pharmacother. Sep 2008;9(13):2327-37. [Medline].

  19. Pineda M, Arpa J, Montero R, Aracil A, Domínguez F, Galván M, et al. Idebenone treatment in paediatric and adult patients with Friedreich ataxia: long-term follow-up. Eur J Paediatr Neurol. Nov 2008;12(6):470-5. [Medline].

  20. Di Prospero NA, Sumner CJ, Penzak SR, Ravina B, Fischbeck KH, Taylor JP. Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia. Arch Neurol. Jun 2007;64(6):803-8. [Medline].

  21. Di Prospero NA, Baker A, Jeffries N, Fischbeck KH. Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial. Lancet Neurol. Oct 2007;6(10):878-86. [Medline].

  22. Rai M, Soragni E, Jenssen K, Burnett R, Herman D, Coppola G, et al. HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model. PLoS One. Apr 9 2008;3(4):e1958. [Medline]. [Full Text].

  23. Willis JH, Isaya G, Gakh O, Capaldi RA, Marusich MF. Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers. Mol Genet Metab. Aug 2008;94(4):491-7. [Medline]. [Full Text].

  24. Soragni E, Herman D, Dent SY, Gottesfeld JM, Wells RD, Napierala M. Long intronic GAA*TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia. Nucleic Acids Res. Nov 2008;36(19):6056-65. [Medline]. [Full Text].

  25. Correia AR, Pastore C, Adinolfi S, Pastore A, Gomes CM. Dynamics, stability and iron-binding activity of frataxin clinical mutants. FEBS J. Jul 2008;275(14):3680-90. [Medline].

  26. Drinkard BE, Keyser RE, Paul SM, Arena R, Plehn JF, Yanovski JA, et al. Exercise capacity and idebenone intervention in children and adolescents with Friedreich ataxia. Arch Phys Med Rehabil. Jul 2010;91(7):1044-50. [Medline]. [Full Text].

  27. Lynch DR, Perlman SL, Meier T. A phase 3, double-blind, placebo-controlled trial of idebenone in friedreich ataxia. Arch Neurol. Aug 2010;67(8):941-7. [Medline].

  28. Shapiro F, Specht L. The diagnosis and orthopaedic treatment of childhood spinal muscular atrophy, peripheral neuropathy, Friedreich ataxia, and arthrogryposis. J Bone Joint Surg Am. Nov 1993;75(11):1699-714. [Medline].

  29. Milbrandt TA, Kunes JR, Karol LA. Friedreich's ataxia and scoliosis: the experience at two institutions. J Pediatr Orthop. Mar 2008;28(2):234-8. [Medline].

  30. Pandolfo M, Montermini L. Prenatal diagnosis of Friedreich ataxia. Prenat Diagn. Aug 1998;18(8):831-3. [Medline].

  31. Klockgether T, Ludtke R, Kramer B, et al. The natural history of degenerative ataxia: a retrospective study in 466 patients. Brain. Apr 1998;121 ( Pt 4):589-600. [Medline].

 
Previous
Next
 
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.