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Friedreich Ataxia
by
Cynthia M. Johnson, MA DefinitionFriedreich 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.
CausesFriedreich ataxia is caused by a faulty gene. Someone with the disease inherits a copy of the faulty gene from each parent. Risk FactorsHaving 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. SymptomsSymptoms may not be the same in each person. Some problems may be:
DiagnosisThe 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. TreatmentThere is no cure for this health problem. The goal of treatment is to manage symptoms and promote function. This can be done with:
Regular tests will need to be done to look for signs of diabetes or cardiomyopathy. PreventionThere 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: ...(Click grey area to select URL) 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 Last Updated: 4/2/2020 | |