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Definition of Friedreich's ataxia

Friedrich's ataxia: a rare inherited (genetic) disease that causes problems with movement that usually begins in childhood. The term ataxia refers to problems with muscle coordination, and Friedrich's ataxia causes degeneration of nerve and brain tissue that worsens with time. Friedreich ataxia is caused by a mutation in the FXN gene, which makes a protein called frataxin. Friedrich's ataxia is inherited in an autosomal recessive manner, meaning that two defective copies of the gene (one from each parent) are needed to cause the disease. Signs and symptoms of Friedrich's ataxia include awkward and unsteady movements that become progressively worse over time, such as gait disturbances, balance problems, slurred speech, spasticity, curvature of the spine (scoliosis), and problems with swallowing. The rate of progression varies according to the individual.

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Parenting & Children's Health Resources
Reviewed on 2/3/2020
References
What is Friedrich’s ataxia? NINDS. Updated: Aug 13, 2019.
<https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Friedreichs-Ataxia-Fact-Sheet>
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