Topic 8.1. Overview of pain in Friedreich 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.

Topic Contents

8.1 Overview of pain in Friedreich ataxia

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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.
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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.


8.1 Overview of pain in Friedreich ataxia

Theresa Zesiewicz, Sylvia Boesch and George Wilmot

The authors acknowledge Kelly Sullivan for the use of some content from the previous version of the guidelines (2014).

Individuals with Friedreich ataxia (FRDA) can experience pain from a variety of disease-related symptoms including neuropathy, spasms, and cardiac and orthopedic issues. When measured using a validated scale, pain has a significant impact on the quality of life of people with FRDA (1).

There are no systematic evaluations of the prevalence, severity or management of pain associated with FRDA and few case reports. Often, pain relief is achieved through treatment of the underlying cause; for example, treatment of orthopedic issues or muscle spasms. Cardiomyopathy is common in people with FRDA and chest pain can occur due to abnormal coronary vasculature (2). Chest pain as the first symptom of FRDA has also been reported in a 9-year-old child diagnosed with FRDA six years later (3). Spasticity can contribute to pain in individuals with FRDA. Even without clinical signs of spasticity, one individual was reported to have frequent painful extensor and flexor spasms that severely interfered with quality of life (4). These spasms persisted despite oral baclofen treatment but responded to intrathecal baclofen. Two other more recent case studies suggest Intrathecal baclofen may be of benefit to individuals with painful spasms (5, 6).

See Chapter 4 for further details on cardiac issues.

See Chapter 3.4 for further details on treatment of pain related to spasticity.

The authors acknowledge Kelly Sullivan for the use of some content from the previous version of the guidelines (2014).

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

George Wilmot, MD, PhD
Associate Professor, Department of Neurology, Emory University, Atlanta, Georgia, USA
Email: gwilmot@emory.edu

Theresa Zesiewicz, MD
Professor, University of South Florida, Tampa, Florida, USA
Email: tzesiewi@usf.edu

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5. Berntsson SG, Gauffin H, Melberg A, Holtz A, Landtblom AM. Inherited ataxia and intrathecal baclofen for the treatment of spasticity and painful spasms. Stereotact Funct Neurosurg. 2019;97(1):18-23.

6. Kalyvas AV, Drosos E, Korfias S, Gatzonis S, Themistocleous M, Sakas DE. Intrathecal baclofen therapy for painful muscle spasms in a patient with Friedreich’s ataxia. Stereotact Funct Neurosurg. 2018;96(2):127-30.

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9. Attal N, Cruccu G, Baron R, Haanpaa M, Hansson P, Jensen TS, et al. EFNS guidelines on the pharmacological treatment of neuropathic pain: 2010 revision. Eur J Neurol. 2010;17(9):1113-e88.

10. Reetz K, Dogan I, Hohenfeld C, Didszun C, Giunti P, Mariotti C, et al. Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS). Neurology. 2018;91(10):e917-e30.

11. Dharmshaktu P, Tayal V, Kalra BS. Efficacy of antidepressants as analgesics: a review. J Clin Pharmacol. 2012;52(1):6-17.

12. Finnerup NB, Attal N, Haroutounian S, McNicol E, Baron R, Dworkin RH, et al. Pharmacotherapy for neuropathic pain in adults: a systematic review and meta-analysis. Lancet Neurol. 2015;14(2):162-73.

13. Epstein E, Farmer JM, Tsou A, Perlman S, Subramony SH, Gomez CM, et al. Health related quality of life measures in Friedreich Ataxia. J Neurol Sci. 2008;272(1-2):123-8.

14. Xiong E, Lynch AE, Corben LA, Delatycki MB, Subramony SH, Bushara K, et al. Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort. J Neurol Sci. 2020;410:116642.

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.