Definition

Friedreich ataxia is a rare, inherited disease that worsens over time. It affects the nervous system and causes it to break down. This causes problems with movement and coordination.

The Nervous System
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Causes

Friedreich ataxia is caused by a faulty gene. Someone with the disease inherits a copy of the faulty gene from each parent.

Risk Factors

Having a family member with the faulty gene raises a person's risk of this health problem.

This problem is also more common in people who are White. It usually starts when a person is in their early to mid teens.

Symptoms

Symptoms may not be the same in each person. Some problems may be:

  • Problems walking
  • Loss of balance
  • Problems speaking and swallowing
  • Foot deformities
  • Hearing loss and vision loss
  • Eye movement abnormalities

Diagnosis

The doctor will ask about your symptoms and health history. A physical exam will be done. You may need to see a doctor who treats nervous system problems.

Genetic testing of the blood will be done. This can confirm the diagnosis.

Treatment

There is no cure for this health problem. The goal of treatment is to manage symptoms and promote function. This can be done with:

  • Physical and occupational therapy to help with movement and to learn new ways of doing tasks
  • Speech therapy to help with talking and swallowing
  • Support devices to manage foot or back abnormalities
  • Mobility aids, such as walkers and wheelchairs
  • Surgery to correct foot or back abnormalities

Regular tests will need to be done to look for signs of diabetes or cardiomyopathy.

Prevention

There are no guidelines to prevent Friedreich ataxia.

RESOURCES:

Friedreich’s Ataxia Research Alliance
http://www.curefa.org

National Ataxia Foundation
http://www.ataxia.org

CANADIAN RESOURCES:

International Network of Ataxia Friends
http://internaf.org

Muscular Dystrophy Canada
http://www.muscle.ca

REFERENCES:

Bidichandani SI, Delatycki MB, et al. Friedreich Ataxia GeneReviews 2012 Feb 2.

Burk K. Friedreich ataxia: current status and future prospects. Cerebellum atxias. 2017;4:4.

Friedreich ataxia. EBSCO DynaMed website. Available at:https://www.dynamed.com/condition/friedreich-ataxia. Updated January 26, 2017. Accessed April 2, 2020.

Friedreich's ataxia (FA). Muscular Dystrophy Association website. Available at: http://mdausa.org/disease/friedreichs-ataxia. Accessed April 2, 2020.

Friedreich’s ataxia fact sheet. National Institute of Neurological Disorders and Stroke website. Available at: https://www.ninds.nih.gov/Disorders/All-Disorders/Friedreichs-Ataxia-Information-Page. Updated March 27, 2019. Accessed April 2, 2020.

Kuo SH. Ataxia. Continuum (Minneapolis). 2019;25(4):1036-1054.

Last reviewed February 2020 by EBSCO Medical Review Board Rimas Lukas, MD