The Friedreich ataxia is a disorder or genetic perturbation might inherit an individual (specifically parent), and which causes an injury continuous in the nervous system, causing in this way the person present difficulties in language alterations in displacement, even suffering from heart disease.
The gene that causes this rare disease is called frataxin (FXN) and is responsible for the body to generate a part of the DNA called the trinucleotide repeat (GAA), the human body normally comprises approximately 8 to 30 copies of (GAA), individuals suffering from Friedreich's ataxia can have up to a thousand copies (GAA), this is due to an alteration in the frataxin gene.
The more copies (GAA) a person covers, the faster the disease will appear. In order for a person to inherit the disease, they must receive the defective gene from the father and mother. Symptoms frequently appear during childhood, before reaching adolescence, and are characterized by the deterioration of the brain system and the spinal cord that are responsible for controlling muscle movements, coordination, etc., these are some symptoms that may occur: Loss of balance due to lack of coordination, lack of reflexes in the legs, complications when speaking, unstable movements, heart failure, vision disturbances and when the diseaseis very advanced the patient may suffer from diabetes.
In order to treat this disease, specialists recommend physical therapies, the use of wheelchairs and, if necessary, the placement of orthopedic devices, in the case of presenting heart problems, then resorting to a cardiologist, etc. Ataxia is a disease that will gradually get worse so that the person will not be able to carry out their daily activities, this condition can lead the person to premature death. It is very important to emphasize that if the person is aware that there is a history of this disease in his family, it would be advisable to consult with the doctors, (especially if you have plans to have children), in this case you will undergo genetic tests to help you rule out any risk.
