TY - JOUR
T1 - Patient reported quality of life in limb girdle muscular dystrophy
AU - Kovalchick, Laurel V.
AU - Bates, Kameron
AU - Statland, Jeffrey
AU - Weihl, Conrad
AU - Kang, Peter B.
AU - Lowes, Linda P.
AU - Mozaffar, Tahseen
AU - Straub, Volker
AU - Wicklund, Matthew
AU - Heatwole, Chad
AU - Johnson, Nicholas E.
N1 - Publisher Copyright:
© 2021 Elsevier B.V.
PY - 2022/1
Y1 - 2022/1
N2 - This study determined the frequency and impact of symptoms on quality of life in patients diagnosed with limb girdle muscular dystrophy (LGMD). Participants with a diagnosis of LGMD in registries based at the Coalition to Cure Calpain-3, the Jain foundation, and the Global FKRP Registry competed a survey to report the frequency and relative impact of themes and symptoms of LGMD. Frequency, mean impact, and population impact scores were calculated, and responses were categorized by age, symptom duration, gender, employment status, use of assistive devices, and LGMD subtypes. 134 participants completed the survey. The most prevalent themes included an inability to do activities (100%), limitation with mobility (99.3%), and lower extremity weakness (97.0%). Themes with the greatest impact were: limitations with mobility, lower extremity weakness, and an inability to do activities. Symptom duration and the use of assistive devices were associated with the presence of multiple themes. Employment was associated with the impact of several themes with no differences in frequency. The prevalence and impact of these themes vary in the LMGD population. The most prevalent and impactful themes were related to weakness, but additional concerns related to emotional challenges should also be considered in clinical and research settings.
AB - This study determined the frequency and impact of symptoms on quality of life in patients diagnosed with limb girdle muscular dystrophy (LGMD). Participants with a diagnosis of LGMD in registries based at the Coalition to Cure Calpain-3, the Jain foundation, and the Global FKRP Registry competed a survey to report the frequency and relative impact of themes and symptoms of LGMD. Frequency, mean impact, and population impact scores were calculated, and responses were categorized by age, symptom duration, gender, employment status, use of assistive devices, and LGMD subtypes. 134 participants completed the survey. The most prevalent themes included an inability to do activities (100%), limitation with mobility (99.3%), and lower extremity weakness (97.0%). Themes with the greatest impact were: limitations with mobility, lower extremity weakness, and an inability to do activities. Symptom duration and the use of assistive devices were associated with the presence of multiple themes. Employment was associated with the impact of several themes with no differences in frequency. The prevalence and impact of these themes vary in the LMGD population. The most prevalent and impactful themes were related to weakness, but additional concerns related to emotional challenges should also be considered in clinical and research settings.
KW - Dysferlin, Calpain-3
KW - FKRP
KW - Limb girdle muscular dystrophy
KW - Patient report
KW - Quality of life
UR - http://www.scopus.com/inward/record.url?scp=85121775734&partnerID=8YFLogxK
U2 - 10.1016/j.nmd.2021.11.002
DO - 10.1016/j.nmd.2021.11.002
M3 - Article
C2 - 34961728
AN - SCOPUS:85121775734
SN - 0960-8966
VL - 32
SP - 57
EP - 64
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
IS - 1
ER -