Myotonic dystrophy type 2 (DM2) lacks validated patients´ reported outcomes (PROs). This represents a limit for monitoring disease progression and perceived efficacy of symptomatic treatments. Our aim was to investigate whether PROs for activities of daily living designed for other neuromuscular diseases could be used in DM2. Sixty-six DM2 patients completed the following PROs: DM1-Activ-c, Rasch-built Pompe-specific activity (R-PAct) scale, McGill-pain questionnaire, fatigue and daytime sleepiness scale and Beck depression inventory (BDI-II). Clinical data and motor outcome measures (6-minutes walking test - 6MWT, manual muscle testing, quick motor function test and myotonia behavior scale) were collected as well. Patients underwent one visit at baseline and one after 10 months. Ceiling/flooring effects, criterion validity and discriminant validity were calculated. DM1-activ-c and R-PAct showed acceptable ceiling effects despite being built for myotonic dystrophy type 1 and Pompe disease, respectively. The difficulty hierarchy of the single items was better preserved in R-PAct than in DM1-Activ-c. Both tests showed excellent criterion validity highly correlating with 6MWT, quick motor function test, myalgia and disease duration. They could partially discriminate patients with different disability grades. These results suggest that DM1-Activ-c, slightly better than R-PAct, might be adopted for monitoring activities of daily living also in DM2, at least until disease-specific PROs will be available.

中文翻译：

---

如何捕捉 2 型肌强直性营养不良患者的日常生活活动？

肌强直性营养不良 2 型 (DM2) 缺乏经过验证的患者报告结果 (PRO)。这代表了监测疾病进展和对症治疗的感知功效的限制。我们的目的是调查为其他神经肌肉疾病设计的日常生活活动的 PRO 是否可用于 DM2。66 名 DM2 患者完成了以下 PRO：DM1-Activ-c、Rasch 构建的庞贝特定活动 (R-PAct) 量表、麦吉尔疼痛问卷、疲劳和白天嗜睡量表以及贝克抑郁量表 (BDI-II)。还收集了临床数据和运动结果测量（6 分钟步行测试 - 6MWT、手动肌肉测试、快速运动功能测试和肌强直行为量表）。患者在基线时接受了一次访问，在 10 个月后接受了一次访问。天花板/地板效果，计算标准效度和区分效度。尽管 DM1-activ-c 和 R-PAct 分别用于 1 型强直性营养不良和庞贝病，但仍显示出可接受的天花板效应。单个项目的难度层次在 R-PAct 中比在 DM1-Activ-c 中得到了更好的保留。两项测试均显示出与 6MWT、快速运动功能测试、肌痛和疾病持续时间高度相关的优秀标准效度。他们可以部分地区分具有不同残疾等级的患者。这些结果表明，DM1-Activ-c 比 R-PAct 略好，可用于监测 DM2 中的日常生活活动，至少在疾病特异性 PRO 可用之前。分别。单个项目的难度层次在 R-PAct 中比在 DM1-Activ-c 中得到了更好的保留。两项测试均显示出与 6MWT、快速运动功能测试、肌痛和疾病持续时间高度相关的优秀标准效度。他们可以部分地区分具有不同残疾等级的患者。这些结果表明，DM1-Activ-c 比 R-PAct 略好，可用于监测 DM2 中的日常生活活动，至少在疾病特异性 PRO 可用之前。分别。单个项目的难度层次在 R-PAct 中比在 DM1-Activ-c 中得到了更好的保留。两项测试均显示出与 6MWT、快速运动功能测试、肌痛和疾病持续时间高度相关的优秀标准效度。他们可以部分地区分具有不同残疾等级的患者。这些结果表明，DM1-Activ-c 比 R-PAct 略好，可用于监测 DM2 中的日常生活活动，至少在疾病特异性 PRO 可用之前。