Orthopedic Surgery for Friedreich Ataxia Treatment & Management

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

Medical Care

As previously discussed, GAA repeat expansion along with the reduced effect on frataxin expression is the main known causation of this disorder. No approved therapy to delay, stop, or reverse the progression of Friedreich ataxia is available in the United States. Free radical scavengers, specific inhibitors of histone deacetylases, and antioxidants (eg, coenzyme Q, N- acetylcysteine, vitamin E) currently are being studied, and antioxidant therapy with idebenone, in particular, has been undergoing extensive studies for the treatment of FA.[11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25]

Idebenone potentially improves mitochondrial function and decreases production of reactive oxygen species. However, it has not been shown to increase exercise capacity or significantly alter neurologic function.[26, 27]

Diabetes must be managed. Cardiac failure and arrhythmias should be treated as they arise.

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Surgical Care

Surgery for foot deformity and scoliosis may be of benefit in selected patients.

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Consultations

  • Genetic counselor for DNA testing
  • Orthopedic surgeon for scoliosis and cavo varus foot deformities[28, 29]
  • Cardiologist for evaluation of cardiomyopathy
  • Endocrinologist for diabetes mellitus management
  • Rehabilitation medicine therapist for prostheses, walking aids, wheelchairs, and physical, occupational, and speech therapy
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Activity

It is important for the patient to maintain an active lifestyle.

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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

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