Orthopedic Surgery for Friedreich Ataxia 

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

Background

Friedreich ataxia (FA) is the prototype of all forms of progressive ataxia, and accounts for approximately one half of all cases of hereditary ataxia. FA is an autosomal recessive spinocerebellar disorder that has a slow but relentlessly degenerative course.[1]

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Pathophysiology

Friedreich ataxia (FA) is caused by mutations in the FXN gene, which provides instructions for making a protein called frataxin. Certain nerve and muscle cells cannot function properly with a shortage of frataxin, leading to the signs and symptoms of FA. Approximately 98% of mutant alleles have an expansion of a gossypol acetic acid (GAA) trinucleotide repeat in intron 1 of the gene, leading to reduced levels of frataxin.[2, 3, 4, 5, 6, 7, 8]

The current hypothesis is that frataxin is a mitochondrial protein important for normal production of cellular energy. A defect in its action may result in abnormal accumulation of iron in mitochondria, leading to excess production of free radicals, which then results in cellular damage and death.[9] The neural pathways affected in FA are those associated with large neuronal cell bodies and extensive axon elongations, which are the long tracts of the dorsal columns, pyramidal system, and peripheral nerves.

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Epidemiology

Frequency

United States

Friedreich ataxia occurs in 1-2 per 100,000 of the US population.

International

Prevalence of Friedreich ataxia is 1-2 per 100,000 of the international population; prevalence appears to be slightly higher in Quebec, Canada.

Mortality/Morbidity

The rate of progression of Friedreich ataxia (FA) is variable, but more than 95% of individuals with FA cannot ambulate by the time they are aged 45 years, and on average, patients lose the ability to walk 15 years following onset of symptoms. Age at death is rather variable. Reported mean ages have been in the mid fourth decade of life, although survival into the sixth and seventh decades of life has been documented. Death tends to be earlier if heart disease and diabetes are associated.

Race

All races are affected.

Sex

Men and women are affected equally.

Age

Symptoms may begin in infancy or in the third decade; however, symptoms usually begin when an individual is aged 8-15 years.

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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.

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