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@ARTICLE{Keipert:280894,
      author       = {Keipert, Lisa M and Wurster, Claudia and Uzelac, Zeljko and
                      Dorst, Johannes and Schuster, Joachim and Wollinsky, Kurt
                      and Ludolph, Albert and Lule, Dorothee},
      title        = {{P}ain in adult and adolescent patients with 5q-associated
                      {S}pinal {M}uscular {A}trophy - an often underrated
                      phenomenon.},
      journal      = {Journal of neuromuscular diseases},
      volume       = {12},
      number       = {5},
      issn         = {2214-3599},
      address      = {Amsterdam},
      publisher    = {IOS Press},
      reportid     = {DZNE-2025-00978},
      pages        = {662 - 669},
      year         = {2025},
      abstract     = {Spinal 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.},
      keywords     = {Humans / Male / Adult / Female / Cross-Sectional Studies /
                      Muscular Atrophy, Spinal: complications / Muscular Atrophy,
                      Spinal: genetics / Muscular Atrophy, Spinal: psychology /
                      Adolescent / Middle Aged / Young Adult / Quality of Life /
                      Prospective Studies / Pain: etiology / Pain: epidemiology /
                      Pain Measurement / Depression / SMA (Other) / depression
                      (Other) / depressiveness (Other) / pain (Other) / quality of
                      life (Other) / spinal muscular atrophy (Other)},
      cin          = {Clinical Study Center (Ulm)},
      ddc          = {610},
      cid          = {I:(DE-2719)5000077},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40396429},
      doi          = {10.1177/22143602251325773},
      url          = {https://pub.dzne.de/record/280894},
}