Patient-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1)
Patient-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1)
复制标题
DOI：
10.1212/wnl.0b013e318260cbe6
复制
发表时间：
2012-07-01
期刊：
影响因子：
9.9
通讯作者：
Moxley, Richard, III
中科院分区：
文献类型：
--
作者：
Heatwole, Chad;Bode, Rita;Moxley, Richard, III
目的：确定全国强直性肌营养不良1型(DM1)人群中最严重的症状，并确定对这些症状的严重程度影响最大的修正因素。方法：我们对2010年4月至8月国家强直性肌营养不良1型(DM1)患者登记的278名成年DM1患者进行了横断面研究。我们评估了221个严重的DM1症状和14个疾病主题的患病率和相对重要性。这些症状和主题是根据先前对DM1患者的采访而选择进行评估的。根据年龄、CTG重复长度、性别和症状持续时间对回答进行分类。结果：患有DM1的参与者提供了症状评分调查回答，以说明每个DM1症状的相对频率和重要性。DM1中患病率最高的症状是手部或手臂问题(93.5%)、疲劳(90.8%)、肌强直(90.3%)、睡眠障碍或日间嗜睡(87.9%)。参与者认为疲劳和行动不便是对他们的生活影响最大的症状主题。我们发现，年龄与所有主题的平均患病率之间存在关联(p<；0.01)，CTG重复长度与所有症状主题对参与者生活的平均影响之间存在关联(p<；0.01)。结论：有广泛的症状显著影响DM1患者的生活。这些症状，有些以前没有被认识到，在DM1人群中具有不同程度的重要性，并与患者的年龄和CTG重复长度非线性相关。神经病学(R)2012；79：348-357
Objective: To determine the most critical symptoms in a national myotonic dystrophy type 1 (DM1) population and to identify the modifying factors that have the greatest effect on the severity of these symptoms.Methods: We performed a cross-sectional study of 278 adult patients with DM1 from the national registry of patients with DM1 between April and August 2010. We assessed the prevalence and relative significance of 221 critical DM1 symptoms and 14 disease themes. These symptoms and themes were chosen for evaluation based on prior interviews with patients with DM1. Responses were categorized by age, CTG repeat length, gender, and duration of symptoms.Results: Participants with DM1 provided symptom rating survey responses to address the relative frequency and importance of each DM1 symptom. The symptomatic themes with the highest prevalence in DM1 were problems with hands or arms (93.5%), fatigue (90.8%), myotonia (90.3%), and impaired sleep or daytime sleepiness (87.9%). Participants identified fatigue and limitations in mobility as the symptomatic themes that have the greatest effect on their lives. We found an association between age and the average prevalence of all themes (p < 0.01) and between CTG repeat length and the average effect of all symptomatic themes on participant lives (p < 0.01).Conclusions: There are a wide range of symptoms that significantly affect the lives of patients with DM1. These symptoms, some previously underrecognized, have varying levels of importance in the DM1 population and are nonlinearly dependent on patient age and CTG repeat length. Neurology (R) 2012;79:348-357