St. Luke's Hospital
Main Number: 314-434-1500 Emergency Dept: 314-205-6990 Patient Billing: 888-924-9200
Find a Physician Payment Options Locations & Directions
Follow us on: facebook twitter Mobile Email Page Email Page Print Page Print Page Increase Font Size Decrease Font Size Font Size
America's 50 Best Hospitals
Meet the Doctor
Spirit of Women
Community Health Needs Assessment
Home > Health Information

Multimedia Encyclopedia

    Print-Friendly
    Bookmarks

    Friedreich's ataxia

    Spinocerebellar degeneration

    Friedreich's ataxia is a rare disease passed down through families (inherited) that affects the muscles and heart.

    Causes

    Friedreich's ataxia is caused by a defect in a gene called Frataxin (FXN). This gene is located on chromosome 9. Changes in this gene cause the body to make too much of a part of DNA called trinucleotide repeat (GAA). Normally, the body contains about 8 to 30 copies of GAA. Those withFriedreich's ataxia have as many as 1,000 copies. The more copies of GAA a patient has, the earlier in life the disease starts and the faster it gets worse.

    Friedreich's ataxia is an autosomal recessive genetic disorder. This means you must get a copy of the defective gene from both your mother and father.

    Symptoms

    Symptoms are caused by the wearing away of structures in areas of the brain and spinal cord that control coordination, muscle movement, and other functions. Symptoms generally begin in childhood before puberty, and may include:

    • Abnormal speech
    • Changes in vision, particularly color vision
    • Decrease in ability to feel vibrations in lower limbs
    • Foot problems, such as hammer toe and high arches
    • Hearing loss -- occurs in about 10% of patients
    • Jerky eye movements
    • Loss of coordination and balance, which leads to frequent falls
    • Muscle weakness
    • No reflexes in the legs
    • Unsteady gait and uncoordinated movements (ataxia) -- gets worse with time

    Muscle problems lead to changes in the spine, which may result in scoliosis or kyphoscoliosis.

    Heart disease usually develops and may lead to heart failure. Death may result from heart failure or dysrhythmias that do not respond to treatment. Diabetes may develop in later stages of the disease.

    Exams and Tests

    The following tests may be done:

    • ECG
    • Electrophysiological studies
    • EMG (electromyography)
    • Genetic testing
    • Nerve conduction tests
    • Muscle biopsy
    • X-ray, CT scan, or MRI of the head
    • X-ray of the chest
    • X-ray of the spine

    Blood sugar (glucose) tests may reveal diabetes or glucose intolerance. An eye exam may show damage to the optic nerve, which usually occurs without symptoms.

    Treatment

    Treatment for Friedreich's ataxia includes:

    • Counseling
    • Speech therapy
    • Physical therapy
    • Walking aids or wheelchairs

    Orthopedic interventions (such as braces) may be needed for scoliosis and foot problems. Treatment of heart disease and diabetes may help improve the quality and duration of life.

    Outlook (Prognosis)

    Friedreich's ataxia slowly gets worse and causes problems performing everyday activities. Most patients need to use a wheelchair within 15 years of the disease's start. The disease may lead to early death.

    Possible Complications

    • Diabetes
    • Heart failure or heart disease
    • Loss of ability to move around

    When to Contact a Medical Professional

    Call your health care provider if muscle weakness, numbness, loss of coordination, loss of reflexes, or other symptoms of Friedreich's ataxia occur (particularly if there is a family history of the disorder).

    Prevention

    Individuals with a family history of Friedreich's ataxia who intend to have children should consider genetic screening and counseling to determine their risk.

    References

    Ramirez-Montealegre D, Mink JW. Ataxias.In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 590.1.

    BACK TO TOP

    • Central nervous system

      illustration

      • Central nervous system

        illustration

      A Closer Look

        Tests for Friedreich's ataxia

          Review Date: 11/12/2012

          Reviewed By: Kevin Sheth, MD, Department of Neurology, University of Maryland School of Medicine, Baltimore, MD. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

          The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
          adam.com

          A.D.A.M. content is best viewed in IE9 or above, Fire Fox and chrome browser.


          Back  |  Top
          About Us
          Contact Us
          History
          Mission
          Locations & Directions
          Quality Reports
          Annual Reports
          Honors & Awards
          Community Health Needs
          Assessment

          Newsroom
          Services
          Brain & Spine
          Cancer
          Heart
          Maternity
          Orthopedics
          Pulmonary
          Sleep Medicine
          Urgent Care
          Women's Services
          All Services
          Patients & Visitors
          Locations & Directions
          Find a Physician
          Tour St. Luke's
          Patient & Visitor Information
          Contact Us
          Payment Options
          Financial Assistance
          Send a Card
          Mammogram Appointments
          Health Tools
          My Personal Health
          mystlukes
          Spirit of Women
          Health Information & Tools
          Clinical Trials
          Health Risk Assessments
          Employer Programs -
          Passport to Wellness

          Classes & Events
          Classes & Events
          Spirit of Women
          Donate & Volunteer
          Giving Opportunities
          Volunteer
          Physicians & Employees
          For Physicians
          Remote Access
          Medical Residency Information
          Pharmacy Residency Information
          Physician CPOE Training
          Careers
          Careers
          St. Luke's Hospital - 232 South Woods Mill Road - Chesterfield, MO 63017 Main Number: 314-434-1500 Emergency Dept: 314-205-6990 Patient Billing: 888-924-9200
          Copyright © St. Luke's Hospital Website Terms and Conditions  |  Privacy Policy  |  Patient Notice of Privacy Policies PDF Sitemap St. Luke's Mobile