Would you believe that chronic pain in neuromuscular disorders is rarely talked about?
This seems counterintuitive for a set of conditions which all feature pain as a symptom. However, Steiner et al. in a large scientific collaboration in Switzerland noticed that despite being a common complaint, pain is hugely underreported in medical literature. In particular, information about pain in patients with spinal muscular atrophy (SMA) is difficult to find, and studies rarely ever include information about children and/or adolescents. Of the three studies Steiner et al. found about pain in people with SMA which included children, pain was reported as a ‘mild’ but chronic, daily occurrence. The literature these researchers examined also found chronic pain across other neuromuscular disorders (such as Duchenne muscular dystrophy and Becker muscular dystrophy), but it was patients with SMA who stood out as having little writings about them and their experiences of pain.
Using data collected from the Swiss Registry for Neuromuscular Disorders, Steiner et al. were able to access information about pain from a number of individuals with SMA and related muscle-weakening conditions. The data gathered from routine care visits was divided up across a number of attributes, including the type of SMA a patient had, whether they used a wheelchair or had surgery, and where patients ranked on the CGI-S: a scale used to rate illness severity. All of the data gathered was taken from patients with a diagnosis of SMA, and all reports were done before the 31st of December 2024. Of the 162 patients asked, 141 (or 86.5%) reported experiencing chronic pain lasting for three months or more.
The findings varied across categories of age, sex, and additional complications and conditions. Chronic pain was largely reported by adolescents (people between the ages of 12 and 18) at a rate of 62%. This was followed by 48% of adults, 39% of children between 6-11, and 10% of children under 6 years old, all experiencing chronic pain. Interestingly, females were far more likely to report experiencing chronic pain, especially if they had scoliosis and/or corrective surgeries relating to said scoliosis. The most common type of SMA which had associated chronic pain was type 2, and pain was largely reported in the legs, back and hips. There was also a higher prevalence of pain in those with contractures, a kind of tissue scarring and shortening which leads to tightness in the muscles, tendons and skin.
The purpose of this study was to gather basic information about whether or not people with SMA experience chronic pain. The findings of this study involve the line: ‘Awareness should be heightened among health care providers that pain can be an important issue in patients with SMA’. This is frustrating not because of the important work done by Steiner et al., but because this paper was not published until 2024. Despite an overwhelming majority of patients in this study reporting chronic pain, these findings reveal a gap between real, lived experience of patients with muscle-weakening conditions and those who treat them. It was only by drawing on first-person accounts that researchers could connect the low muscle mass, joint loading and fatigue associated with SMA with chronic pain, as well as pain brought on by daily activities common with muscle-weakening conditions (e.g., transferring from a bed to a wheelchair).
This is a phenomenon we see often in our Research Unravelled series: where a daily experience for the neuromuscular community takes years to be researched and passed onto clinicians in charge of care. When doctors and carers are unaware of the realities of a given condition, it is all too easy for patients to be reduced to a template version of the condition they have: the definition learned from textbooks, or the ‘ideal’ presentation of a condition. This is why Pathfinders champions disabled-led expertise. Studies like this one are vital not just because of the work done by the researchers, but because of the accounts given by people with neuromuscular conditions. While it seems obvious that chronic pain enormously affects one’s quality of life, to those who are not experiencing it—including those in charge of care—bias and assumptions can creep in, making care less tailored and effective to people with muscle-weakening conditions.
The work by Steiner et al. and the patient reports via the Swiss Registry for Neuromuscular Disorders is a familiar story, wherein literature about a commonly-experienced symptom for those with a disability is not readily documented. Without the disclosure of personal experience from those with muscle-weakening conditions, guidelines for care cannot be influenced from a lived experience perspective. We at Pathfinders hope that by breaking down articles like this, we can encourage those within the muscle-weakening community to share their stories and improve collective knowledge for everyone.
Part of the work we do at Pathfinders involves demystifying research which affects the neuromuscular community. Do you have a research paper or topic you’d like to see covered? If so, get in contact with us at quinn@pathfindersalliance.org.uk.
Steiner, L., Tscherter, A., Henzi, B., Branca, M., Carda, S., Enzmann, C., Fluss, J., Jacquier, D., Neuwirth, C., Ripellino, P., Scheidegger, O., Schlaeger, R., Schreiner, B., Stettner, G. M., & Klein, A., on behalf of the Swiss-Reg-NMD Group. (2024). Chronic Pain in Patients with Spinal Muscular Atrophy in Switzerland: A Query to the Spinal Muscular Atrophy Registry. Journal of Clinical Medicine, 13(10), 2798. https://doi.org/10.3390/jcm13102798