Orthopedic Surgery for Friedreich Ataxia Differential Diagnoses

  • Author: Stephen Kishner, MD, MHA; Chief Editor: Harris Gellman, MD  more...
Updated: Jun 05, 2013

Diagnostic Considerations

Other problems to be considered include the following:

  • Hereditary motor and sensory neuropathy (HMSN) type 1
  • Abetalipoproteinemia
  • Isolated vitamin E deficiency
  • Other early onset ataxias (ie, Marinesco-Sjögren syndrome, Ramsay Hunt syndrome, X-linked inherited ataxia)
  • Late-onset ataxias (ie, common autosomal dominant cerebellar ataxia [ADCA], Machado-Joseph disease, Cuban and other forms of ADCA, Sporadic cerebellar ataxia of late onset)
  • Ataxia telangiectasia
  • Developmental ataxias (ie, Dandy-Walker syndrome and Chiari malformation, Joubert syndrome, Gillespie syndrome)
  • Acquired ataxias (ie, trauma, infections [eg, viral including Epstein-Barr virus, echovirus, coxsackievirus, polio virus, Creutzfeldt-Jakob disease, AIDS, toxoplasmosis, Lyme disease, mycoplasma, legionellosis, bacterial abscess], vascular, neoplasms, neoplastic syndromes, demyelinating, metabolic [eg, hyponatremia, hypothyroidism, nutritional], toxins [eg, anticonvulsants, lithium, bismuth, cytotoxic drugs, solvents, methyl mercury, alcohol-related cerebellar degeneration], physical agents [eg, heatstroke])
Contributor Information and Disclosures

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, American Association of Neuromuscular and Electrodiagnostic Medicine

Disclosure: Nothing to disclose.

Specialty Editor Board

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

Disclosure: Received salary from Medscape for employment. for: Medscape.

Paul E Di Cesare, MD 

Paul E Di Cesare, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American College of 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; Clinical Professor of Surgery, Nova Southeastern 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, Arkansas Medical Society, Florida Medical Association, Florida Orthopaedic Society

Disclosure: Nothing to disclose.

Additional Contributors

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, Royal Australasian College of Surgeons

Disclosure: Nothing to disclose.


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

  1. Pandolfo M. Friedreich ataxia. Arch Neurol. 2008 Oct. 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. 2000 Jan 22. 9(2):275-82. [Medline].

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

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

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

  7. Martin JB. Molecular basis of the neurodegenerative disorders. N Engl J Med. 1999 Jun 24. 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. 2000 Apr 12. 9(6):887-92. [Medline].

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

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

  12. Tonon C, Lodi R. Idebenone in Friedreich's ataxia. Expert Opin Pharmacother. 2008 Sep. 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. 2009 Mar. 256 Suppl 1:42-5. [Medline].

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

  18. Tonon C, Lodi R. Idebenone in Friedreich's ataxia. Expert Opin Pharmacother. 2008 Sep. 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. 2008 Nov. 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. 2007 Jun. 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. 2007 Oct. 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. 2008 Apr 9. 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. 2008 Aug. 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. 2008 Nov. 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. 2008 Jul. 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. 2010 Jul. 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. 2010 Aug. 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. 1993 Nov. 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. 2008 Mar. 28(2):234-8. [Medline].

  30. Pandolfo M, Montermini L. Prenatal diagnosis of Friedreich ataxia. Prenat Diagn. 1998 Aug. 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. 1998 Apr. 121 ( Pt 4):589-600. [Medline].

Medscape Consult