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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 MyotonPROvalues 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: nociceptive pain, spinal muscular atrophy, SMA3, clinical outcome, pain pressure threshold, myotonometry

Overall, muscle pain in SMA type 3 cannot be explained by changes in muscular stiffness, frequency, decrement, relaxation or creep. This shows that muscle pain in SMA type 3 is mainly caused by changes in the dysbalanced musculoskeletal system, caused by (regional) muscular weakness. As our conclusions are based on a relatively small cohort, we suggest evaluating pain in SMA3 in larger cohorts in the future.