Friedreich's Ataxia: Symptoms & Signs

Medically Reviewed on 8/31/2021

Friedreich's ataxia is a rare inherited (genetic) disease that causes problems with movement. Symptoms usually begin in childhood. Friedrich's ataxia causes degeneration of nerve and brain tissue that worsens with time. The condition is caused by a mutation in the FXN gene, which makes a protein called frataxin.

Signs and symptoms of Friedreich's ataxia include problems with unsteady movements that become progressively worse over time, such as

  • gait disturbances,
  • balance problems,
  • slurred speech, and
  • spasticity.

Curvature of the spine may result from the abnormal actions of muscles. Another associated symptom can be problems with swallowing. The rate of progression varies according to the individual.

Cause of Friedreich's ataxia

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.

Other friedreich's ataxia symptoms and signs

  • Balance Problems
  • Gait Disturbances
  • Slurred Speech
  • Spasticity

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References
Jameson, J. Larry, et al. Harrison's Principles of Internal Medicine, 20th Ed. New York: McGraw-Hill Education, 2018.