Research Article: Pain in Children and Adolescents with Spinal Muscular Atrophy: A Longitudinal Study from a Patient Registry
Abstract:
Spinal muscular atrophy (SMA) is a devastating genetic neurodegenerative disease caused by the insufficient production of Survival Motor Neuron (SMN) protein. It presents different phenotypes with frequent contractures and dislocations, scoliosis, and pain. This study aims to report the prevalence and description of pain and how it affects daily life by analyzing a new ad hoc questionnaire. An observational study of patients under 18 years of age with SMA was conducted at two referral centers in Spain. Data were analyzed using a descriptive analysis and a Bayesian ordinal regression model to assess the association with clinical and demographic variables. Fifty-one individuals were included in this study, 27% of whom reported pain with a median duration of 5.2 years and a mean Visual Analogic Scale (VAS) score of 5. Notably, 77% were receiving disease-modifying treatment, with more than 50% receiving analgesic treatment. The Bayesian model showed that functional status, lower limb contractures, and number of visits have a high probability (>90%) of influencing pain. Thus, the prevalence of pain in the SMA population under 18 years is substantial, and its presence could be associated with lower limb contractures, better functional status, and higher RULM (Revised Upper Limb Module) scores.
Introduction:
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by the degeneration of alpha motor neurons of the anterior horns of the spinal cord, resulting in lower Survival Motor Neuron (SMN) protein production and leading to progressive muscle atrophy and weakness [1,2], making it a devastating neurodegenerative disease [3]. The severity of SMA is highly variable, and clinical features have been classically classified into phenotypes based on the age of onset and maximum motor function…
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