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000280894 0247_ $$2ISSN$$a2214-3599
000280894 0247_ $$2ISSN$$a2214-3602
000280894 037__ $$aDZNE-2025-00978
000280894 041__ $$aEnglish
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000280894 1001_ $$aKeipert, Lisa M$$b0
000280894 245__ $$aPain in adult and adolescent patients with 5q-associated Spinal Muscular Atrophy - an often underrated phenomenon.
000280894 260__ $$aAmsterdam$$bIOS Press$$c2025
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000280894 520__ $$aSpinal muscular atrophy (SMA) is a genetic disorder leading to progressive muscle weakness and atrophy. Pain in SMA may be the consequence of the underlying neuromuscular disease but has hardly been investigated so far.To assess pain in SMA and its interaction with patient's wellbeing.In a prospective, cross-sectional study design, 70 adult and adolescent SMA patients (median age 30 years, IQR 21-49 years, types I-IV) were assessed at the Department of Neurology, Ulm University hospital. Pain was evaluated with a self-adapted Pain Scale, depressiveness with the ALS-Depression-Inventory-12-Items (ADI-12) and global Quality of Life (gQoL) with the Anamnestic Comparative Self-Assessment (ACSA).We found an intermittent frequency of pain in 80% in SMA patients with more than half of the patients experience pain at least once a week. The mean pain intensity score estimated by pain frequency and strength was 24 on a scale of 0 to 240, indicating a frequently appearing mild to moderate pain. Pain was mostly located in the lumbar spine, hip, and thoracic spine. The pain intensity score was independent from demographics (age, gender) or clinical parameters (SMA type, physical state), but, instead, it was associated to depressiveness. Depressiveness was more prevalent in older SMA patients. gQoL was rather independent from pain intensity or physical state.The study provides evidence for a prevalence of mild to moderate pain in 80% of adult and adolescent SMA patients. Pain was not simply caused by physical deficits and did not severely interfere with patients' quality of life, but, instead, was closely interrelated with patients' affective state.
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000280894 650_7 $$2Other$$aSMA
000280894 650_7 $$2Other$$adepression
000280894 650_7 $$2Other$$adepressiveness
000280894 650_7 $$2Other$$apain
000280894 650_7 $$2Other$$aquality of life
000280894 650_7 $$2Other$$aspinal muscular atrophy
000280894 650_2 $$2MeSH$$aHumans
000280894 650_2 $$2MeSH$$aMale
000280894 650_2 $$2MeSH$$aAdult
000280894 650_2 $$2MeSH$$aFemale
000280894 650_2 $$2MeSH$$aCross-Sectional Studies
000280894 650_2 $$2MeSH$$aMuscular Atrophy, Spinal: complications
000280894 650_2 $$2MeSH$$aMuscular Atrophy, Spinal: genetics
000280894 650_2 $$2MeSH$$aMuscular Atrophy, Spinal: psychology
000280894 650_2 $$2MeSH$$aAdolescent
000280894 650_2 $$2MeSH$$aMiddle Aged
000280894 650_2 $$2MeSH$$aYoung Adult
000280894 650_2 $$2MeSH$$aQuality of Life
000280894 650_2 $$2MeSH$$aProspective Studies
000280894 650_2 $$2MeSH$$aPain: etiology
000280894 650_2 $$2MeSH$$aPain: epidemiology
000280894 650_2 $$2MeSH$$aPain Measurement
000280894 650_2 $$2MeSH$$aDepression
000280894 7001_ $$0P:(DE-2719)9002006$$aWurster, Claudia$$b1
000280894 7001_ $$00000-0003-2479-2025$$aUzelac, Zeljko$$b2
000280894 7001_ $$0P:(DE-2719)9001951$$aDorst, Johannes$$b3$$udzne
000280894 7001_ $$0P:(DE-2719)9002279$$aSchuster, Joachim$$b4$$udzne
000280894 7001_ $$00009-0001-5436-8033$$aWollinsky, Kurt$$b5
000280894 7001_ $$0P:(DE-2719)2812633$$aLudolph, Albert$$b6$$udzne
000280894 7001_ $$0P:(DE-2719)9002172$$aLule, Dorothee$$b7$$udzne
000280894 773__ $$0PERI:(DE-600)2802674-3$$a10.1177/22143602251325773$$gVol. 12, no. 5, p. 662 - 669$$n5$$p662 - 669$$tJournal of neuromuscular diseases$$v12$$x2214-3599$$y2025
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