Friedreich’s Ataxia is a rare, hereditary, monogenic, neurodegenerative disease. This disease is caused by a transmutation of both DNA copies of the FXN gene, which can be found in the 9q13 chromosome and encodes a protein that consists of 210 amino acids, known as frataxin. In a large majority of cases, these transmutations are consisted of important GAA trinucleotides’ extensions in both of the DNA double helixes, corresponding to the first introns of the frataxin gene and lead to inhibition of normal frataxin production.
Friedreich’s Ataxia is a neurodegenerative disease, which means that it causes the progressive collapse of the nervous system. It is characterized by progressive ataxia i.e. inability to coordinate movements, dysarthria – speech disorder-, muscle weakness and atrophy, mainly of the lower extremities. Hypertrophic cardiomyopathy and diabetes mellitus are also common.
Signs and symptoms of the disease typically start showing between the ages of 5 and 15. The disease affects about one in 50,000 people. Right now in Greece, it is estimated that there are 100 patients.