Friedrich’s ataxia is a progressive neurological disorder, caused by a gene mutation resulting in a lack of the protein frataxin, which regulates the level and redistribution of iron in the body. As this protein is absent, or insufficient, iron accumulates in the tissues to abnormal levels, which results in the creation of toxins – free radicals (oxidative stress) which then attack the nervous system, muscles, heart, pancreas… and that by damaging the mitochondria of cells and eventually killing them; the result of everything is a state of disease. It starts with symptoms from 5 to 15 years of age. The probability of getting FA is 1: 50000!
The symptoms are – impossibility to maintain balance, impaired coordination of arm and leg movements, muscle weakness and as the disease is progressive – it is likely related to inv. cart. Due to damage to the mitochondria, which are the energy factories of our body, there is also a lack of energy, so fatigue occurs quickly. The most serious disorder in the majority of patients is cardiomyopathy, that is, hypertrophy of the myocardium of the left ventricle, we have an accelerated heartbeat, during physical activities we have an uncontrolled heart rate, which can further damage the heart. In 10 – 20% of patients, diabetes is also possible, problems with vision, hearing, speech, swallowing are possible, and orthopedically, aggressive scoliosis of the spine and ‘pes cavus’, i.e. a raised arch of the foot, which further complicates mobility, are almost mandatory. It is important to emphasize that mental abilities remain intact. It hurts too much for a child, for a parent, for a family. The problems are serious, and hard to understand for the common man – so much because of just one mistake in the genetic code!
– There is no cure, and no known treatment methods. We recommend physical therapy, physical activity – walking, spa rehabilitation… more recently, the drug Idebenon, from the group of antioxidants, as well as several other supplements…
– The quality of life of patients does not depend only on the severity of the disease, but above all on social support, the availability of quality support services that would deal with their needs and the needs of their families. International cooperation, exchange of scientific knowledge about FA and all diseases is needed. It is not true that nothing can be done about rare diseases, it is not true that one should “give up” on everything and let time take its course – the participation of patients, families and state institutions is necessary; mostly, a smile, a kind word, offering hope, possibilities for fighting can mean more than medicine. The quality of life is reduced due to the lack of independence. There is despair and suffering of the whole family due to lack of therapy and lack of practical support. Difficulties appear in various areas of life – school, free time… The family becomes focused only on solving the given situation, less – more the sense of reality is lost, it is almost like living in a “world of its own” – a world of struggle, the search for information , providing money for treatment, and providing livelihood, which creates a surreal and devastating situation…
Fear of the unknown, of the final outcome, is everyday. A National Plan is needed, money for medicines and an incentive for Clinical Research should be provided.



For more information:

Association for help and support for people suffering from Fidreich’s ataxia

Ratka Pavlovića 6/11, 17510 Vladičin Han; tel. 062 215 253
Tekući račun broj: 160-342162-44