Department of Neurology, Virginia Commonwealth University, 1101 E Marshall St Box 980599, Richmond, VA 23298 USA.
Department of Neurology, Kansas University Medical Center, 2100 W. 36th Avenue Suite 122, Kansas City, KS 66103 USA.
Neuromuscul Disord. 2022 Jan;32(1):57-64. doi: 10.1016/j.nmd.2021.11.002. Epub 2021 Nov 13.
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.
本研究旨在确定肢带型肌营养不良症（LGMD）患者的症状频率及其对生活质量的影响。在基于肌钙蛋白-3 联合治疗协会、贾因基金会和全球 FKRP 登记处的登记处中被诊断为 LGMD 的参与者完成了一项调查，以报告 LGMD 的主题和症状的频率和相对影响。计算了频率、平均影响和人群影响评分，并根据年龄、症状持续时间、性别、就业状况、辅助器具使用情况和 LGMD 亚型对反应进行了分类。134 名参与者完成了调查。最常见的主题包括无法进行活动（100%）、活动受限（99.3%）和下肢无力（97.0%）。影响最大的主题是：活动受限、下肢无力和无法进行活动。症状持续时间和辅助器具的使用与多种主题的存在相关。就业与几个主题的影响相关，而在频率上没有差异。这些主题在 LGMD 人群中的流行程度和影响程度各不相同。最常见和最具影响力的主题与虚弱有关，但在临床和研究环境中还应考虑与情绪挑战相关的其他问题。
