Rare Diseases, Friedreich’s Ataxia: Experts and Patients Take Stock

The current panorama of rare diseases is increasingly complex and articulated, so much so that there is often no appropriate awareness and knowledge of the individual pathologies.. One week after World Ataxia Daywhich is celebrated on September 25thto outline an updated scenario on Friedreich’s ataxia and also report the point of view of those who experience it and live with it every day, Biogen organized a meeting with two authoritative experts: Enrico Bertinineurologist, head of the Neuromuscular and Neurodegenerative Diseases Research Unit at the Bambino Gesù Children’s Hospital in Rome, and Mary Litaninational president of Aisa, Italian Association of Ataxic Syndromes.

The term ataxia derives from the Greek and indicates a neurological sign consisting of the progressive loss of muscular coordination that makes it difficult to perform some voluntary movements. Friedreich’s ataxia (AF) is a rare, genetic, debilitating, degenerative neuromuscular disease with a limited life expectancy, characterized by a multisystem disorder that primarily affects the nervous system, but also the musculoskeletal, cardiac, and endocrine systems. The first symptoms usually appear during childhood and include progressive loss of coordination of movements, ataxic gait, muscle weakness and fatigue. As the disease progresses, vision problems, hearing problems, difficulty in speaking and swallowing, diabetes, scoliosis and serious heart disease may also arise. “Friedreich’s ataxia is an autosomal recessive neurodegenerative disease caused by pathogenic variants of the frataxin gene – explained Bertini – and, although rare, it is the most common type of hereditary ataxia, accounting for almost 50% of all cases. There are approximately 15,000 people in the world who currently live with Friedreich’s ataxia, while in Italy, in light of the most recent epidemiological study conducted in Lazio, it is possible to estimate a prevalence of 1.07 per 100,000 inhabitants”.

Many people with Friedreich’s ataxia require walking aids and are often forced to use a wheelchair within 10-20 years of diagnosis. Unfortunately, complications related to AF contribute to reducing the average life expectancy to 37 years. “Aisa is the first Italian Association for the fight against ataxic syndromes – he said Litanies – and operates in the field of social and health volunteering to encourage and promote molecular genetic, biochemical and immunological scientific research on ataxias. It carries out information and promotion activities for their prevention, provides global support to ataxic patients and their families by helping them to resolve problems arising from the onset of the disease and raises funds to achieve these objectives”.