Orthopedic Surgery for Friedreich Ataxia Treatment & Management

Updated: Nov 22, 2022
  • Author: Stephen Kishner, MD, MHA; Chief Editor: Vinod K Panchbhavi, MD, FACS, FAOA, FABOS, FAAOS  more...
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Medical Care

As previously discussed, GAA repeat expansion along with the reduced effect on frataxin expression is the main known cause of Friedreich ataxia (FA). No approved therapy to delay, stop, or reverse the progression of FA is available in the United States. Free radical scavengers, specific inhibitors of histone deacetylases, and antioxidants (eg, coenzyme Q, N-acetylcysteine, vitamin E) are being studied. [14]

Antioxidant therapy with idebenone, in particular, has been extensively studied for the treatment of FA. [15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30] 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. [31, 32]

Supportive treatment should be provided as needed. Diabetes must be managed. Cardiac failure and arrhythmias should be treated as they arise.


Surgical Care

Surgery for foot deformity and scoliosis may be of benefit in selected patients. Current guidelines should provide assistance in making this determination (see Guidelines). [3]



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. [33] 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.



Consultations that may be helpful include the following:

  • Genetic counselor for DNA testing
  • Orthopedic surgeon for scoliosis and cavovarus foot deformities [34, 35]
  • Cardiologist for evaluation of cardiomyopathy
  • Endocrinologist for diabetes mellitus management
  • Rehabilitation medicine therapist for prostheses, walking aids, wheelchairs, and physical, occupational, and speech therapy