Clinical Management Guidelines for Friedreich Ataxia (FRDA)

Chapter 1. Overview of Friedreich’s Ataxia

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This chapter of the Clinical Management Guidelines for Friedreich Ataxia and the recommendations and best practice statements contained herein were endorsed by the authors and the Friedreich Ataxia Guidelines Panel in 2022.

1.1 Clinical features of Friedreich ataxia

1.2 Genetics and pathophysiology of Friedreich ataxia

1.3 Genotype phenotype correlations in Friedreich ataxia

1.4 Neuromorphology of the nervous system in Friedreich ataxia

1.5 Early diagnosis of Friedreich ataxia

1.6 Overview of quality of life in Friedreich ataxia

Disclaimer / Intended Use / Funding

Disclaimer
The Clinical Management Guidelines for Friedreich ataxia (‘Guidelines’) are protected by copyright owned by the authors who contributed to their development or said authors’ assignees.

These Guidelines are systematically developed evidence statements incorporating data from a comprehensive literature review of the most recent studies available (up to the Guidelines submission date) and reviewed according to the Grading of Recommendations, Assessment Development and Evaluations (GRADE) framework © The Grade Working Group.

Guidelines users must seek out the most recent information that might supersede the diagnostic and treatment recommendations contained within these Guidelines and consider local variations in clinical settings, funding and resources that may impact on the implementation of the recommendations set out in these Guidelines.

The authors of these Guidelines disclaim all liability for the accuracy or completeness of the Guidelines, and disclaim all warranties, express or implied to their incorrect use.

Intended Use
These Guidelines are made available as general information only and do not constitute medical advice. These Guidelines are intended to assist qualified healthcare professionals make informed treatment decisions about the care of individuals with Friedreich ataxia. They are not intended as a sole source of guidance in managing issues related to Friedreich ataxia. Rather, they are designed to assist clinicians by providing an evidence-based framework for decision-making.

These Guidelines are not intended to replace clinical judgment and other approaches to diagnosing and managing problems associated with Friedreich ataxia which may be appropriate in specific circumstances. Ultimately, healthcare professionals must make their own treatment decisions on a case-by-case basis, after consultation with their patients, using their clinical judgment, knowledge and expertise.
Guidelines users must not edit or modify the Guidelines in any way – including removing any branding, acknowledgement, authorship or copyright notice.

Funding
The authors of this document gratefully acknowledge the support of the Friedreich Ataxia Research Alliance (FARA). The views and opinions expressed in the Guidelines are solely those of the authors and do not necessarily reflect the official policy or position of FARA.

Sanjay I. Bidichandani, MBBS, PhD
Professor of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA
Email: sanjay-bidichandani@ouhsc.edu

Antoine Duquette, MD, MSc, FRCP(C)
Associate Clinical Professor, Centre hospitalier de l’Université de Montréal, Montréal, Québec, Canada
Email: antoine.duquette@umontreal.ca

Jennifer Farmer, MS
Chief Executive Officer, Friedreich’s Ataxia Research Alliance (FARA), Downingtown, Pennsylvania, USA
Email: info@curefa.org

Marcondes C. França Jr, MD, PhD
Associate Professor, Department of Neurology, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil
Email: mcfjr@unicamp.br

Arnulf H. Koeppen, MD
Research Physician, Veterans Affairs Medical Center, Albany, New York, USA
Email: arnulf.koeppen@med.va.gov

Katherine Mathews, MD
Professor, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA
Email: katherine-mathews@uiowa.edu

Hélène Puccio, PhD
Research Director Inserm, Institut Neuromyogène – Pathophysiology and Genetics of Neuron and Muscle, Lyon, France
Email: helene.puccio@inserm.fr

Myriam Rai, PhD
Director of Global Relations & Initiatives, Friedreich’s Ataxia Research Alliance (FARA), Brussels, Belgium
Email: myriam.rai@curefa.org

Kathrin Reetz, MD
Professor for Translational Neurodegeneration, Department of Neurology, RWTH Aachen University, Aachen, NRW, Germany
Email: kreetz@ukaachen.de

Ludger Schöls, MD
Professor of Neurology, Eberhard-Karls University, Tübingen, Germany
Email: Ludger.Schoels@uni-tuebingen.de

Elisabetta Soragni
Director of Research, The Friedreich’s Ataxia Research Alliance, Downingtown, Pennsylvania, USA
Email: liz.soragni@curefa.org

Sub H. Subramony, MD
Professor of Neurology and Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA
Email: s.subramony@neurology.ufl.edu

Ariane Veilleux Carpentier, MD
Neurology Resident, Université de Montréal, Montréal, Québec, Canada

Robert B. Wilson, MD, PhD
Professor of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
Email: wilsonr@pennmedicine.upenn.edu

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These Guidelines are systematically developed evidence statements incorporating data from a comprehensive literature review of the most recent studies available (up to the Guidelines submission date) and reviewed according to the Grading of Recommendations, Assessment Development and Evaluations (GRADE) framework © The Grade Working Group.

This chapter of the Clinical Management Guidelines for Friedreich Ataxia and the recommendations and best practice statements contained herein were endorsed by the authors and the Friedreich Ataxia Guidelines Panel in 2022.

It is our expectation that going forward individual topics can be updated in real-time in response to new evidence versus a re-evaluation and update of all topics simultaneously.