Affiliation:
1. Movement Disorders Unit, University Hospital of Strasbourg, France
2. Department of Clinical and Movement Neurosciences, University College London Queen Square Institute of Neurology, Faculty of Brain Sciences, University College London, UK
3. Nottingham, UK
Abstract
This symposium was held on the first day of the European Academy of Neurology (EAN) Congress, with four main objectives: to raise awareness of Friedreich ataxia (FA) as a rare, progressive neurodegenerative disorder; to summarise the patient journey from identifying first symptoms in childhood and adolescence to reaching an accurate diagnosis; to discuss the burden of living with FA and highlight the benefit of improved communication and collaboration between members of the multidisciplinary team on reducing this burden on patients and their caregivers; and to summarise current management options within the field of FA and provide an overview of emerging therapies and active clinical trials.
The symposium was chaired by Sylvia Boesch, a neurologist and senior staff member at the Medical University of Innsbruck, Austria, and Head of the Centre for Rare Movement Disorders, Innsbruck, Austria, who presented an overview of rare diseases in general and of FA. Mathieu Anheim, a neurologist at the Movement Disorders Unit, University Hospital of Strasbourg, France, followed with a description of the aetiology and symptomatology of FA. Lastly, Paola Giunti, a professorial research associate in the Department of Clinical and Movement Neurosciences, University College London Queen Square Institute of Neurology, Faculty of Brain Sciences, University College London, UK, explained the best approach to FA management, including a summary of clinical trials for emerging therapies in FA.
Subject
Cardiology and Cardiovascular Medicine
Reference44 articles.
1. European Commission (EC). Rare diseases. Available at: https://research-and-innovation.ec.europa.eu/research-area/health/rare-diseases_en. Last accessed: 5 July 2023.
2. Wakap SN et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28(2):165-73.
3. European Commission (EC). The building blocks to make rare disease treatments more common. Available at: https://ec.europa.eu/research-and-innovation/en/horizon-magazine/building-blocks-make-rare-disease-treatments-more-common. Last accessed: 5 July 2023.
4. Gimenez-Lozano C et al. Rare diseases: needs and impact for patients and families: a cross-sectional study in the Valencian region, Spain. Int J Environ Res Public Health. 2022;19(16):10366.
5. Pharmaceutical Technology. Low awareness of rare diseases increases morbidity and potential mortality. 2021. Available at: https://www.pharmaceutical-technology.com/comment/low-awareness-rare-diseases-potential-mortality/. Last accessed: 5 July 2023.