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Orthopedic Surgery for Friedreich Ataxia Follow-up

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

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.

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Complications

Potential complications include the following:

  • Cardiac arrhythmias, angina, heart failure
  • Respiratory failure
  • Dysphagia
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Prognosis

The rate of progression of FA is variable. The mean age of loss of ambulation is 25 years. Death usually occurs in the middle of the 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.

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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.

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.

Patients should be instructed as to the importance of maintaining 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, 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, 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

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.

Acknowledgements

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

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