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Saturday, February 6, 2016
Inherited Disorders and Birth Defects
Friedreich`s Ataxia or Another Condition
I was diagnosed with Friedreich`s Ataxia when I was 13 years old back in 1964. Recently I had a DNA test and no Friedreich`s Ataxia gene was found. I am wheelchair bound, cannot walk, and slur my words at times, and show other signs of Friedreich`s Ataxia. Can you give a reason for this or a cause. Thank you.
As you may know, Friedreich ataxia (FRDA) is caused by a mutation (change) in a gene called frataxin that is on chromosome 9. Among people with FRDA, almost 99% will have a gene change in frataxin. However, there is a very small number of people who meet the clinical diagnostic criteria for FRDA (have the signs and symptoms of someone with FRDA), but do not have this mutation. In this case, there could be a problem in another gene near the frataxin gene.
Also, there are some other diseases that can have similar findings such as ataxia. It may be helpful to talk to your doctor who follows you for your FRDA or to a genetic counselor or geneticist, if you have not already done so to ask why the genetic test you had did not show a change in the gene for FRDA.
You can locate a genetics center near you at the National Society of Genetic Counselors' Resource Center below.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University