Topic 8.3. Pain not related to neuropathy
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
8.3 Pain not related to neuropathy
8.3.1 Non-neuropathic pain in Friedreich ataxia
8.3.2 Management of non-neuropathic pain
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.
8.3 Pain not related to neuropathy
Theresa Zesiewicz, Sylvia Boesch and George Wilmot
8.3.1 Non-neuropathic pain in Friedreich ataxia
There is little published data about non-neuropathic pain in FRDA, and the prevalence of non-neuropathic pain in FRDA patients is unknown. Individuals with FRDA appear to suffer from pain, as indicated by symptom-specific scales (1, 13, 14). Specifically, non-neuropathic pain may originate from spasticity, cramping, musculoskeletal and orthopedic issues, scoliosis, injury, and chest pain due to cardiac dysfunction. Osteoarticular problems with associated inflammation may also contribute to non-neuropathic pain.
8.3.2 Management of non-neuropathic pain
The effect of non-neuropathic pain on individuals with FRDA appears to be under recognized and underreported. There is currently no cure for FRDA, and treatment remains symptomatic. Pain relief in neurological diseases may be accomplished by pharmacological therapy, focal injections of botulinum toxin for musculoskeletal issues, nerve blocks, physical therapy, spinal stimulators, and surgery for orthopedic issues. The efficacy of these treatments has not been reported extensively in rigorous studies.
Despite this, and as with neuropathic pain, non-neuropathic pain that interferes with a person’s quality of life should be addressed and alleviated. Each treatment, from pharmacological to invasive, should be weighed according to risks and benefits. Caution should be exercised when using agents with potential cardiac side effects in the FRDA population. Although the recommendations for pain treatment in FRDA are cautious, this is due to a paucity of data rather than evidence that interventions are not efficacious. More research is needed to examine the role of pain in FRDA and the efficacy of various treatments.
Oral medications
QUESTION: Should oral medications versus none be used for pain with Friedreich ataxia?
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RECOMMENDATION: We conditionally recommend the use of oral medication over no medication to manage pain in individuals with Friedreich ataxia.
JUSTIFICATION: Despite there being no published evidence directly related to the use of medication for pain management in Friedreich ataxia, the expert authors agree that the negative effects of pain on quality of life, mobility and participation in daily activities support proactive management of pain by medication. Consideration needs to be given to side-effects of pain medication that may exacerbate existing issues, such as reduced balance, poor mobility, falls risk and increased fatigue, and people with Friedreich ataxia taking medication should be monitored for possible adverse effects.
SUBGROUP CONSIDERATION: This recommendation is for individuals with Friedreich ataxia who report pain.
Evidence to Recommendation Table PDFPhysical therapy
QUESTION: Should physical therapy versus no intervention or versus medications be used for musculoskeletal pain with Friedreich ataxia?
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RECOMMENDATION: We conditionally recommend the use of physical therapy in the first instance, over no physical therapy or medication to manage pain in individuals with Friedreich ataxia. If physical therapy is not effective, as per the previous recommendation we conditionally recommend the use of oral medication over no medication.
JUSTIFICATION: Despite there being no published evidence directly related to the use of physical therapy for pain management in Friedreich ataxia, the expert authors agree that the negative effects of pain on quality of life, mobility and participation in daily activities support proactive management of pain by physical therapy. Clinical experience in both individuals with and without Friedreich ataxia suggests that physical therapy is a low-risk intervention that may be effective and might limit the reliance on medication.
SUBGROUP CONSIDERATION: This recommendation is for individuals with Friedreich ataxia who report pain. Some individuals may have significant limitations to the type and extent of physical therapy they can do due to their neurological and possibly cardiac disease manifestations.
Evidence to Recommendation Table PDFFocal injection
QUESTION: Should focal injections (e.g., spine or joint injection or nerve block) versus medication be used for pain with Friedreich ataxia?
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RECOMMENDATION: We conditionally recommend that injections for musculoskeletal pain can be tried in individuals with Friedreich ataxia when medications are not tolerated or are insufficiently effective.
JUSTIFICATION: Clinical experience in other populations suggests that injections can be used for treatment of musculoskeletal pain that is poorly responsive to medications, with variable effectiveness. There is no reason to believe that individuals with Friedreich ataxia would respond substantially differently to other people.
SUBGROUP CONSIDERATION: This recommendation is for individuals with Friedreich ataxia with severe pain that is not alleviated by other treatments.
Evidence to Recommendation Table PDFImplanted devices
QUESTION: Should implanted devices (spinal stimulator or pain pump) versus oral medication be used for pain with Friedreich ataxia?
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RECOMMENDATION: We cannot recommend the use of implanted devices (spinal stimulator or pain pump) over oral medication for pain in individuals with Friedreich ataxia. Clinicians may consider implanted devices in individuals with severe symptoms in whom less invasive treatments have proven insufficiently effective.
JUSTIFICATION: There are only three reported case studies to guide the suitability of implanted devices for pain control in individuals with Friedreich ataxia (4-6). Based on other patient populations, adverse events can be severe.
In summary, even though the problem of pain is considered to be important and the case studies reported improvement in pain after intervention with implanted devices, more evidence is needed on acceptability and efficacy of implanted devices before they could be recommended as a treatment.
SUBGROUP CONSIDERATION: An implanted device should only be considered for individuals with Friedreich ataxia experiencing severe pain that has not been helped with other treatments.
Evidence to Recommendation Table PDFLay summary of clinical recommendations for pain not related to neuropathy in Friedreich ataxia
Why these recommendations?
Individuals with Friedreich ataxia may experience pain that is not related to neuropathy. This may be due to causes such as pain from spasticity, cramping, musculoskeletal and orthopedic issues, scoliosis, injury, and chest pain due to heart problems. In addition, bone and joint problems with associated inflammation may cause pain. However, there is little published research on either the proportion of people with Friedreich ataxia who experience pain, or the cause of pain in these individuals.
The following points summarize the best ways to manage pain in individuals with Friedreich ataxia that is not due to neuropathy.
● Some oral medications may be used rather than no medication for non-neuropathic pain with Friedreich ataxia.
● Physical therapy may assist in treating pain in Friedreich ataxia. However, there is no evidence as to whether physical therapy is more effective than medication for musculoskeletal pain with Friedreich ataxia.
● There is no evidence to show whether focal injections (e.g., spine or joint injection or nerve block) or implanted devices (spinal stimulator or pain pump) are more effective than medication to treat pain with Friedreich ataxia.
What does this mean for you as a person living with Friedreich ataxia or caring for someone living with Friedreich ataxia?
It is important for you to speak with your Friedreich ataxia healthcare provider if you are experiencing pain of any type that negatively affects your quality of life.
Who is this recommendation specifically for?
People with Friedreich ataxia who are experiencing pain from any cause other than peripheral neuropathy.
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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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.