Chapter 6. Pulmonary function and sleep disturbance in Friedreich ataxia
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.
6.1 Reduced pulmonary function and pulmonary infection
6.2 Breathing related sleep disturbance and nocturnal hypoventilation
6.3 Restless legs and/or sleep related periodic limb movements
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.
6. Pulmonary function and sleep disturbance in Friedreich ataxia
This chapter describes the effects of Friedreich ataxia on pulmonary function and sleep disturbance, including sleep disturbance related to breathing problems and that related to restless legs or periodic limb movements. It also covers strategies for monitoring pulmonary function and managing reduced pulmonary function and sleep disturbance. In making recommendations for management of reduced pulmonary function and sleep disturbance, the authors were tasked with answering the following questions:
For individuals with Friedreich ataxia, what management strategies could be implemented for reduced pulmonary function and preventing pulmonary infections? (see 6.1)
For individuals with Friedreich ataxia, what management strategies could be implemented for breathing related sleep disturbance? (see 6.2)
For individuals with Friedreich ataxia, what management strategies could be implemented for restless legs and/or sleep related periodic limb movements? (see 6.3)
Sylvia Boesch, MD, MSc
Head, Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University Innsbruck, Innsbruck, Austria
Email: sylvia.boesch@i-med.ac.at
Louise Corben, PhD
Principal Research Fellow, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia
Email: louise.corben@mcri.edu.au
Mary G. Kearney, MD
Neurology Research Fellow, Tallaght University Hospital, Dunlavin, Wicklow, Ireland
Email: marykearney@gmail.com
Katherine Mathews, MD
Professor, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA
Email: katherine-mathews@uiowa.edu
Barbara Smith, PhD, PT
Assistant Professor, University of Florida, Gainesville, Florida, USA
Sub H. Subramony, MD
Professor of Neurology and Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA
Email: s.subramony@neurology.ufl.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.