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. 2023 Jan;270(1):250-261.
doi: 10.1007/s00415-022-11351-0. Epub 2022 Aug 29.

Nociceptive pain in adult patients with 5q-spinal muscular atrophy type 3: a cross-sectional clinical study

Elena Sagerer  1 , Corinna Wirner  1 , Benedikt Schoser  1 , Stephan Wenninger  2
Affiliations

Nociceptive pain in adult patients with 5q-spinal muscular atrophy type 3: a cross-sectional clinical study

Elena Sagerer et al. J Neurol. 2023 Jan.

Abstract

Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the SMN gene, leading to progressive muscular weakness, atrophy and so far neglected musculoskeletal pain. This study is the first to characterize nociceptive pain in patients living with SMA type 3 by assessing whether muscle pain is associated with alterations in muscle strength, function, stiffness, frequency, decrement, relaxation, or creep.

Methods: We performed a cross-sectional pilot study on 20 SMA3 patients. We evaluated motor function and muscle strength (dynamometry, quick motor function test and 6-min-walk test), nociceptive pain (pressure algometer evaluating muscular pressure pain threshold (PPT)) and non-invasive measurement of muscle stiffness, frequency, decrement, relaxation, or creep (myotonometry with the MyotonPro®). For statistical analysis, we used t tests, Mann-Whitney U tests and linear regression.

Results: Significantly more women than men reported musculoskeletal pain (p = 0.003). A lower score in dynamometry was associated with lower scores in PPT in all extremities reflecting a higher sensitivity of these muscles to pressure. We did not find significant correlations between the PPT values and the MyotonPro values in the corresponding muscles. Assessments of PPT before and after the 6-min walk test did not show clinical meaningful changes. Besides nociceptive pain, fatigue was prevalent in 50% and pain in 55% of the patients.

Conclusions: Muscle pain in SMA3 is associated with muscular weakness in the arms and legs, but not with changes in muscular stiffness, frequency, decrement, relaxation, or creep. This shows that muscle pain in SMA3 is mainly caused by changes in the dysbalanced musculoskeletal system due to muscle weakness.

Keywords: Clinical outcome; Myotonometry; Nociceptive pain; Pain pressure threshold; SMA3; Spinal muscular atrophy.

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Conflict of interest statement

All authors report no disclosures regarding this study. Outside of this context, SW has received research grant by the DGM—Deutsche Gesellschaft für Muskelkranke e.V. He has served on advisory boards for Alexion Pharma, CSL Behring and Sanofi Genzyme GmbH. He received funding for travel or speaker Honoraria from Sanofi-Aventis Germany GmbH; SH Glykogenose Gesellschaft; AbbVie Germany GmbH; Recordati Pharma GmbH; CSLBehring GmbH; Alexion Pharma GmbH; Desitin Germany; Akcea GmbH. Outside of this context, BS has served on advisory boards for Alexion, Argenex, Amicus, Astellas, Spark, and Sanofi; he has undertaken contracted unrestricted research for Sanofi and Amicus; and has received honoraria from Kedrion. The other authors have no conflicts of interest to declare.

Figures

Fig. 1
Fig. 1
Frequency of pain in all examined men (N = 13) and women (N = 7)
Fig. 2
Fig. 2
Location of perceived pain in all patients reporting pain (n = 11). Percentage of patients experiencing pain in different locations of all 11 patients reporting pain
Fig. 3
Fig. 3
PPT values [kg] in men (N = 13) and women (N = 7). Mean force, displayed in kilogram, needed to induce pain in the muscle. The patients were separated into a female (n = 7) and a male (n = 13) subgroup. Nine different muscles were examined on both sides
See this image and copyright information in PMC

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