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Consensus Clinical Management Guidelines for Friedreich's Ataxia

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Consensus Clinical Management Guidelines for Friedreich’s ataxia November 2014 Date of ERN-RND Affirmation: April 2019 Introduction to the European Reference Network for Rare Neurological Diseases (ERN-RND): ERN-RND is a European Reference Network established and approved by the European Union. ERN-RND is a healthcare infrastructure which focuses on rare neurological diseases (RND). The three main pillars of ERN-RND are (i) network of experts and expertise centres, (ii) generation, pooling and dissemination of RND knowledge, and (iii) implementation of e- health to allow the expertise to travel instead of patients and families. ERN-RND unites 32 of Europe’s leading expert centres in 13 Member States and includes highly active patient organizations. Centres are located in Belgium, Bulgaria, Czech Republic, France, Germany, Hungary, Italy, Lithuania, Netherlands, Poland, Slovenia, Spain and the UK. The following disease groups are covered by ERN-RND: Ataxias and Hereditary Spastic Paraplegias Atypical Parkinsonism and genetic Parkinson’s disease Dystonia, Paroxysmal Disorder and Neurodegeneration with Brain Ion Accumulation Frontotemporal Dementia Huntingtons’ Disease and other Choreas Leukodystrophies Specific information about the network, the expert centres and the diseases covered can be found at the networks web site www.ern-rnd.eu. Affirmation of value: The European Reference Network for Rare Neurological Diseases has affirmed the value of this guideline as best clinical practice for the management of Friedreich’s ataxia. This document was supported by and done in the framework of the European Reference Network for Rare Neurological Diseases (ERN-RND). ERN-RND is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the European Commission (ERN-RND: 3HP 767231). Disclaimer: Clinical practice guidelines, practice advisories, systematic reviews and other guidance published, endorsed or affirmed by ERN-RND are assessments of current scientific and clinical information provided as an educational service. The information (1) should not be considered inclusive of all proper treatments, methods of care, or as a statement of the standard of care; (2) is not continually updated and may not reflect the most recent evidence (new information may emerge between the time information is developed and when it is published or read); (3) addresses only the question(s) specifically identified; (4) does not mandate any particular course of medical care; and (5) is not intended to substitute for the independent professional judgement of the treating provider, as the information does account for individual variation among patients. In all cases, the selected course of action should be considered by the treating provider in the context of treating the individual patient. Use of the information is voluntary. ERN-RND provided this information on an “as is” basis, and makes no warranty, expressed or implied, regarding the information. ERN-RND specifically disclaims any warranties of merchantability or fitness for a particular use or purpose. ERN-RND assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of this information or for any errors or omissions. Guidelines on the FARA website: http://www.curefa.org/clinical-care-guidelines Guidelines: This document was supported by and done in the framework of the European Reference Network for Rare Neurological Diseases (ERN-RND). ERN-RND is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the European Commission (ERN-RND: 3HP 767231). Authors Executive committee: Professor Martin Delatycki, Dr Louise Corben, Professor Massimo Pandolfo, Professor David Lynch, Professor Jörg Schulz Contributing authors (in alphabetical order) Dr Laura Balcer Department of Neurology, University of Pennsylvania School of Medicine, USA. Mr Ron Bartek Friedreich Ataxia Research Alliance, USA. Dr Claire Bates Palliative Medicine, Barking, Havering and Redbridge University Hospitals NHS Trust, UK. Ms Emma Campagna Physiotherapy Department, Friedreich Ataxia Clinic, Monash Medical Centre, Victoria, Australia. Dr Louise Corben Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville and Friedreich Ataxia Clinic, Monash Medical Centre, Victoria, Australia. Dr Miriam Cnop, Laboratory of Experimental Medicine and Division of Endocrinology, Erasmus Hospital, ULB Center for Diabetes Research, Université Libre de Bruxelles, Brussels, Belgium. Professor Martin Delatycki Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville and Friedreich Ataxia Clinic, Monash Medical Centre, Victoria, Australia. Professor Alexandra Dürr Neurogenetic Clinic of Département de Génétique, Hôpital de la Salpêtrière, Paris, France. Dr Anton Emmanuel Department of Gastroenterology and Nutrition, University College London, UK. Ms Jennifer Farmer Friedreich Ataxia Research Alliance, USA. Consensus clinical management guidelines for Friedreich ataxia. November 2014. 2 Professor John Flynn Professor of Orthopaedic Surgery, University of Pennsylvania and Children's Hospital of Philadelphia, USA. Ms Lisa S. Friedman Departments of Neurology and Pediatrics, Children’s Hospital of Philadelphia and the University of Pennsylvania, USA. Dr Paola Giunti Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK. Dr Marios Hadjivassiliou Department of Neurology, Royal Hallamshire Hospital, Sheffield, UK. Dr Michael Ho Monash Lung and Sleep, Monash Medical Centre, Victoria, Australia. Dr Grazia Isaya Pediatric and Adolescent Medicine, Mayo Clinic, Minnesota, USA. Dr Mary Kearney Cochrane Collaboration, Irish College of General Practitioners, Dublin, Ireland. Ms Melissa Loucas Senior Speech and Language Therapist, National Hospital for Neurology and Neurosurgery, London, UK. Professor David R. Lynch Departments of Neurology and Pediatrics, Children’s Hospital of Philadelphia and the University of Pennsylvania, USA. Dr Caterina Marotti Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione-IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. Ms Sarah Milne Physiotherapy Department, Kingston Centre, Victoria, Australia. Dr Thierry Morlet Auditory Physiology and Psychoacoutics Laboratory, A.I. duPont Hospital for Children, Delaware, USA. Dr Andrew McGarry Cooper Neurological Institute, New Jersey, USA. Professor Massimo Pandolfo Consensus clinical management guidelines for Friedreich ataxia. November 2014. 3 Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels, Belgium. Dr Jalesh Panicker National Hospital for Neurology and Neurosurgery, London, UK. Dr Michael Parkinson Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK. Dr R Mark Payne Department of Pediatrics, Indiana University School of Medicine, Indiana, USA. Dr Roger Peverill Monash Heart, Monash Medical Centre, Victoria, Australia. Associate Professor Gary Rance Department of Audiology and Speech Pathology, University of Melbourne, Victoria, Australia. Ms Lucy Rodriguez Clinical Specialist Speech and Language Therapist, National Hospital for Neurology and Neurosurgery, London, UK. Ms Kimberly A. Schadt Departments of Neurology and Pediatrics, Children’s Hospital of Philadelphia and the University of Pennsylvania, USA. Ms Lauren Seyer Departments of Neurology and Pediatrics, Children’s Hospital of Philadelphia and the University of Pennsylvania, USA. Professor Jörg Schulz Department of Neurology, University Hospital, Aachen, Germany. Dr S.H Subramony Department of Neurology, Neuromuscular Division, University of Florida, Gainesville, Florida, USA. Dr. Kelly L. Sullivan University of South Florida, Ataxia Research Center, Florida, USA. Dr Adam Vogel Department of Audiology and Speech Pathology, University of Melbourne, Victoria, Australia. Dr Eppie Yiu Consensus clinical management guidelines for Friedreich ataxia. November 2014. 4 Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville and Friedreich Ataxia Clinic, Monash Medical Centre, Victoria, Australia. Dr Grace Yoon Divisions of Neurology and Clinical and Metabolic Genetics, Hospital for Sick Children and University of Toronto, Ontario, Canada. Dr. Theresa A. Zesiewicz University of South Florida, Ataxia Research Center, Florida, USA. Consensus clinical management guidelines for Friedreich ataxia. November 2014. 5 Disclaimer: This document is designed to be a general guide to appropriate clinical practice. It is anticipated it will be followed subject to the clinician’s judgment and the preference of the person with Friedreich ataxia in each individual case. These guidelines are designed to provide information to assist in decision-making and are based on the best evidence available at the time of development. Clinicians and individuals with Friedreich ataxia are encouraged to ensure they are aware of evidence that may become available after the completion of this document. Copies of the document can be downloaded through the Friedreich Ataxia Research Alliance (USA) on: http://www.curefa.org/ Funding: The authors of this document gratefully acknowledge the financial assistance provided by the Friedreich Ataxia Research Alliance (USA). Consensus clinical management guidelines for Friedreich ataxia. November 2014. 6 Friedreich ataxia clinical
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