Friedreich ataxia

What causes Friedreich ataxia?

Friedreich ataxia is caused by mutations in the FXN gene. This gene provides instructions for making a protein called frataxin. One region of the _FXN _gene contains a segment of DNA known as a GAA trinucleotide repeat. This segment is made up of a series of three DNA building blocks (one guanine and two adenines) that appear multiple times in a row. Normally, this segment is repeated 5 to 33 times within the _FXN _gene. In people with Friedreich ataxia, the GAA segment is repeated 66 to more than 1,000 times. The length of the GAA trinucleotide repeat appears to be related to the age at which the symptoms of Friedreich ataxia appear.

The abnormally long GAA trinucleotide repeat disrupts the production of frataxin, which severely reduces the amount of this protein in cells. Certain nerve and muscle cells cannot function properly with a shortage of frataxin, leading to the characteristic signs and symptoms of Friedreich ataxia.

Last updated on 05-01-20

How is Friedreich ataxia inherited?

Friedreich ataxia is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.

Last updated on 05-01-20

Healthcare Resources

Friedreich's Ataxia Research Alliance (FARA)

Friedreich's Ataxia Research Alliance (FARA) has information on medical centers that are part of the Collaborative Clinical Research Network in Friedreich's Ataxia (CCRN in FA), as well as other centers where you can find clinical care with providers who are familiar with this condition.

Last updated on 04-27-20

Name: Friedreich's Ataxia Research Alliance (FARA) 533 W. Uwchlan Ave.
Downingtown, PA, 19335, United States
Phone: (484) 879-6160 Fax : (484) 872-1402 Email: info@CureFA.org Url: http://www.curefa.org/
Name: National Ataxia Foundation 600 Highway 169 South Suite 1725
Minneapolis, MN, 55426, United States
Phone: +1-763-553-0020 Fax : +1-763-553-0167 Email: naf@ataxia.org Url: https://ataxia.org/
Name: euro-ATAXIA (European Federation of Hereditary Ataxias) Url: https://www.euroataxia.org/
Name: Ataxia UK 12 Broadbent Close
London, N6 5JW, United Kingdom
Phone: 020 7582 1444 Toll Free: 0845 644 0606 (Helpline) Email: helpline@ataxia.org.uk Url: https://www.ataxia.org.uk/
Name: Friedreich's Ataxia Parents' Group Email: info@faparents.org Url: http://www.faparents.org/fapg/
Name: Muscular Dystrophy Association MDA 222 S Riverside Plaza Suite 1500
Chicago, IL, 60606, United States
Toll Free: 1-833-275-6321 (Helpline) Email: resourcecenter@mdausa.org Url: https://www.mda.org

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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