TY  - JOUR
AU  - Keipert, Lisa M
AU  - Wurster, Claudia
AU  - Uzelac, Zeljko
AU  - Dorst, Johannes
AU  - Schuster, Joachim
AU  - Wollinsky, Kurt
AU  - Ludolph, Albert
AU  - Lule, Dorothee
TI  - Pain in adult and adolescent patients with 5q-associated Spinal Muscular Atrophy - an often underrated phenomenon.
JO  - Journal of neuromuscular diseases
VL  - 12
IS  - 5
SN  - 2214-3599
CY  - Amsterdam
PB  - IOS Press
M1  - DZNE-2025-00978
SP  - 662 - 669
PY  - 2025
AB  - 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
KW  - Humans
KW  - Male
KW  - Adult
KW  - Female
KW  - Cross-Sectional Studies
KW  - Muscular Atrophy, Spinal: complications
KW  - Muscular Atrophy, Spinal: genetics
KW  - Muscular Atrophy, Spinal: psychology
KW  - Adolescent
KW  - Middle Aged
KW  - Young Adult
KW  - Quality of Life
KW  - Prospective Studies
KW  - Pain: etiology
KW  - Pain: epidemiology
KW  - Pain Measurement
KW  - Depression
KW  - SMA (Other)
KW  - depression (Other)
KW  - depressiveness (Other)
KW  - pain (Other)
KW  - quality of life (Other)
KW  - spinal muscular atrophy (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:40396429
DO  - DOI:10.1177/22143602251325773
UR  - https://pub.dzne.de/record/280894
ER  -