|The Nervous System|
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- Present in people under the age of 25, usually in the early teenage years
- Progressive leg weakness (eg, difficulty walking)
- Ataxia—lack of coordination and imbalance affecting limbs and walking pattern
- Impaired sensation—especially "position sense" in the feet
- Loss of tendon reflexes in the legs
- Heart failure and diabetes develop as the disease progresses
- Difficulty speaking and swallowing—decreased coordination of the tongue
- Loss of tendon reflexes in all limbs
- Atrophy of muscles
- Scoliosis —curving of spine (affects 85% of people with this condition)
- Foot deformities
- Foot ulcers
- Confined to a wheelchair (by age 45, occurs in 95% of those affected)
- Hearing loss and/or vision loss (over 10% of those affected)
- Eye movement abnormalities
- Movement disorders (eg, tremor, dystonia, chorea)
- EMG and nerve conduction studies —a test to assess the function of the muscles and nerves
- Computerized tomography —a test that uses a computer to make cross-sectional images of the head and spinal cord
- MRI scan —a test that uses magnetic waves to make pictures of structures inside the brain and spinal cord
- Electrocardiogram and 24-hour holter monitoring —a test that assesses the electrical activity of the heart
- Echocardiogram —a test that uses high-frequency sound waves (ultrasound) to examine the size, shape, and motion of the heart
- Genetic testing for the frataxin gene
- Blood and urine tests
- Nerve or muscle biopsy
- Physical therapy and rehabilitation to cope with muscle weakness
- Use of orthotics (devices that go in your shoes) to provide stability and to help with weakness
- Surgery for correcting foot abnormalities and scoliosis
- Periodic testing for associated conditions of diabetes and cardiomyopathy
Friedreich’s Ataxia Research Alliance http://www.curefa.org/
National Ataxia Foundation http://www.ataxia.org/
University of Chicago Ataxia Center http://ataxia.uchicago.edu/
International Network of Ataxia Friends http://internaf.org/
Muscular Dystrophy Canada http://www.muscle.ca/
Bradley WG, Daroff RB. Neurology in Clinical Practice . Philadelphia, PA: Butterworth Heinemann; 2004.
Friedreich ataxia. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed/what.php . Updated June 27, 2012. Accessed September 20, 2012.
Koeppen AH. Friedreich’s ataxia: pathology, pathogenesis, and molecular genetics. J Neurol Sci . 2011;303(1-2):1-12.
Muscular Dystrophy Association. Friedrich's ataxia (FA). Muscular Dystrophy Association website. Available at: http://www.mdausa.org/disease/fa.html . Accessed September 20, 2012.
National Institute of Neurological Disorders and Stroke. Friedreich’s ataxia fact sheet. National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov/disorders/friedreichs%5Fataxia/detail%5Ffriedreichs%5Fataxia.htm . Updated August 16, 2011. Accessed September 20, 2012.
Nashatizadeh, Muhammad M. Ataxia. In: Gilman S, ed. MedLink Neurology. San Diego, CA: MedLink Corporation. MedLink website. Available at: http://www.medlink.com . Accessed May 12, 2008.
University of Chicago-Ataxia Center. http://ataxia.uchicago.edu/FAQ.aspx. Accessed July 31, 2012.
Wilson RB. Therapeutic developments in Friedrich ataxia. J Child Neurol. 2012. Accessed July 31, 2012.
- Reviewer: Rimas Lukas, MD
- Review Date: 09/2012 -
- Update Date: 00/93/2012 -