A Spotlight on Friedreich Ataxia: Optimising the Patient Journey from Diagnosis to Disease Management

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.