Thessaloniki: Scientific research raises hopes for the rare neurodegenerative “Friedrich Ataxia”

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Hopes for slowing the progression of Friedrich Ataxia, a rare and incurable neurodegenerative disease, are being raised around the world by scientific research aimed at approving new drugs.

The data of these researches will be presented at the 1st Panhellenic Conference of the Thessaloniki-based Hellenic Association for Friedrich Ataxia, which will take place on May 6 at the Amphitheater of the Pasteur Institute in Athens (11: 00-19: 30). For those interested, there is also the possibility of online monitoring by the link www.hefaa.org/live.

Friedreich’s Ataxia is a rare, inherited, neurodegenerative disease, characterized by ataxia (lack of order and coordination), muscle atrophy mainly of the lower extremities, instability, scoliosis, dysarthria and fatigue, while the first symptoms appear in people under 25, usually in adolescence or preadolescence. Friedrich’s Ataxia affects about 1 in 50,000 people, while in Greece it is estimated that the patients amount to 100 people. The disease is progressively worsening and so far there is no cure. The patient within ten years from the onset of the disease loses the ability to move autonomously, needs support and mobility in a wheelchair, progressively paralyzed, his nervous system collapses, he loses the ability to see and speakpresents heart problems and diabetes problems and ends up at a young age.

The disease is caused by mutations in the gene (FXN) that encodes the “frataxin” protein. As an inherited disease, it occurs when both parents are carriers of the defective FXN gene, with their patient – descendant suffering from Friedrich Ataxia having inherited two defective genes. The diagnosis is made after a visit to a neurologist. Following the usual clinical examination (to detect symptoms such as scoliosis and loss of reflexes), a family history is checked for other patients with Friedrich Ataxia in the family. An electromyogram and a CT or MRI scan may be needed. A nerve impulse rate test or a heart test may be necessary. A genetic test, however, will give the definitive answer as it is a disease found in the gene.

Although there is no complete cure for Friedrich Ataxia, there are ways to manage the symptoms, such as:

– Physiotherapy and various types of kinesiotherapy (for ataxia, muscle atrophy and instability)

– Speech therapy (dysarthria, dysphagia)

– Psychological support

– Medication (heart problems, diabetes, psychological problems and other symptoms that may occur)

– Surgeries (heart problems, limb problems)

Patients are recommended to be examined by a neurologist at least annually, to record the course of the disease and new symptoms, but also to investigate any new therapeutic approaches.

For their convenience, patients can visit the Aeginite Hospital of Athens, where a special unit for rare diseases operates, with a doctor in charge of Friedrich Ataxia. There is a specialized neurological examination, while the patients are registered in the European medical database of E-FACTS, where all the data of the patients with Friedrich Ataxia are available for comparison and determination of the course of the disease. Regular blood tests and examination by a cardiologist, orthopedist, physiotherapist and psychologist are also recommended.

The examinations from these specialties can be done collectively in the centers of the Association of Care of People with Neuromuscular Diseases MDA Hellas in Athens, Thessaloniki and Patras.

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