Neuromuscular Diseases Unit, Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.
Friedrich-Baur-Institut, Department of Neurology, Ludwig-Maximilians University, Ziemssenstrasse 1a, Munich, Germany.
Curr Opin Neurol. 2018 Oct;31(5):599-609. doi: 10.1097/WCO.0000000000000591.
Myotonic dystrophies are the most frequent muscular dystrophies in adulthood; however, myotonic dystrophy type 2 (DM2) is by far less prevalent than myotonic dystrophy type 1 (DM1). Consequently, studies on large cohorts are lacking and disease-specific outcome measures have not been developed (see video abstract, Supplemental Digital Content 1, http://links.lww.com/CONR/A44).The aim of this review is to systematically evaluate the outcome measures applied in patients with DM2 and to identify tests adopted from other neuromuscular disorders potentially suitable for DM2.A systematic review of functional tests and patient reported outcomes (PROs) previously used in DM2 has been performed. In addition, we reviewed functional tests and PROs previously used in neuromuscular diseases (NMDs). Based on this approach, we propose a battery of tests to be validated in DM2.
No outcome measures or PROs have been validated in DM2. The most used PROs in DM2 were INQoL, SF-36, MPQ, and BPI. It is not clear whether it is better to use MMT or QMT to assess muscle strength. The algometer seems to be a useful tool to assess myalgia. No currently adopted tests or PROs seem effective to assess the mild myotonia of DM2. Several outcome measures used in other NMDs (e.g. 6MWT, QMFT, GSGC) might be suitable for DM2; however, their disease-specific validity needs to be explored.
Although DM2 has a milder and more heterogeneous phenotype than DM1, there is an urgent need to develop validated outcome measures in DM2. The current lack of validated DM2 tests will delay the start of therapeutic trials.
肌强直性营养不良是成年人中最常见的肌肉疾病；然而，肌强直性营养不良 2 型（DM2）远不及肌强直性营养不良 1 型（DM1）常见。因此，缺乏对大样本的研究，也没有开发出针对特定疾病的结果测量（参见视频摘要，补充数字内容 1，http://links.lww.com/CONR/A44）。本综述的目的是系统评估用于 DM2 患者的结果测量，并确定可能适用于 DM2 的来自其他神经肌肉疾病的测试。我们对以前用于 DM2 的功能测试和患者报告的结果（PROs）进行了系统评价。此外，我们还回顾了以前用于神经肌肉疾病（NMDs）的功能测试和 PROs。基于这种方法，我们提出了一套适用于 DM2 的测试方案，需要进一步验证。
没有针对 DM2 的结果测量或 PROs 得到验证。在 DM2 中最常用的 PROs 是 INQoL、SF-36、MPQ 和 BPI。目前还不清楚使用 MMT 还是 QMT 来评估肌肉力量更好。压痛计似乎是评估肌痛的有用工具。目前采用的测试或 PROs 似乎都不能有效地评估 DM2 的轻度肌强直。其他 NMDs 中使用的几种结果测量（如 6MWT、QMFT、GSGC）可能适用于 DM2；然而，它们针对特定疾病的有效性需要进一步研究。
虽然 DM2 的表型比 DM1 更轻且更具异质性，但目前迫切需要开发针对 DM2 的验证结果测量。目前缺乏验证的 DM2 测试将延迟治疗试验的启动。
