University of Belgrade - Faculty of Medicine, University Clinical Center of Serbia - Neurology Clinic, Dr. Subotic Street, 11 000, Belgrade, Serbia.
University of Belgrade - Faculty of Biology, Center for Human Molecular Genetics, Belgrade, Serbia.
Neurol Sci. 2023 Mar;44(3):1059-1067. doi: 10.1007/s10072-022-06507-9. Epub 2022 Nov 19.
Myotonic dystrophy type 2 (DM2) is a rare, multisystemic, autosomal dominant disease with highly variable clinical presentation. DM2 is considered to be highly underdiagnosed.
The aim of this study was to determine which symptoms, signs, and diagnostic findings in patients referred to neurological outpatient units are the most indicative to arouse suspicion of DM2. We tried to make a useful and easy-to-administer clinical scoring system for early diagnosis of DM2-DM2 early diagnosis score (DM2-EDS).
Two hundred ninety-one patients with a clinical suspicion of DM2 were included: 69 were genetically confirmed to have DM2, and 222 patients were DM2 negative. Relevant history, neurological, and paraclinical data were obtained from the electronic medical records.
The following parameters appeared as significant predictors of DM2 diagnosis: cataracts (beta = 0.410, p < 0.001), myotonia on needle EMG (beta = 0.298, p < 0.001), hand tremor (beta = 0.211, p = 0.001), positive family history (beta = 0.171, p = 0.012), and calf hypertrophy (beta = 0.120, p = 0.043). In the final DM2-EDS, based on the beta values, symptoms were associated with the following values: cataracts (present 3.4, absent 0), myotonia (present 2.5, absent 0), tremor (present 1.7, absent 0), family history (positive 1.4, negative 0), and calf hypertrophy (present 1.0, absent 0). A cut-off value on DM2-EDS of 3.25 of maximum 10 points had a sensitivity of 84% and specificity of 81% to diagnose DM2.
Significant predictors of DM2 diagnosis in the neurology outpatient unit were identified. We made an easy-to-administer DM2-EDS score for early diagnosis of DM2.
肌强直性营养不良 2 型（DM2）是一种罕见的多系统常染色体显性遗传疾病，临床表现高度可变。DM2 被认为是高度漏诊的。
本研究旨在确定在神经门诊就诊的患者中哪些症状、体征和诊断发现最能提示 DM2。我们试图建立一个有用且易于管理的临床评分系统，以实现 DM2 的早期诊断-DM2 早期诊断评分（DM2-EDS）。
共纳入 291 例临床疑似 DM2 的患者：69 例经基因证实患有 DM2，222 例 DM2 阴性。从电子病历中获取相关病史、神经学和辅助检查数据。
以下参数似乎是 DM2 诊断的显著预测因素：白内障（β=0.410，p<0.001）、针肌电图肌强直（β=0.298，p<0.001）、手部震颤（β=0.211，p=0.001）、阳性家族史（β=0.171，p=0.012）和小腿肥大（β=0.120，p=0.043）。在最终的 DM2-EDS 中，根据β值，症状与以下值相关：白内障（存在 3.4，不存在 0）、肌强直（存在 2.5，不存在 0）、震颤（存在 1.7，不存在 0）、家族史（阳性 1.4，阴性 0）和小腿肥大（存在 1.0，不存在 0）。DM2-EDS 的最大 10 分中得分 3.25 的截断值诊断 DM2 的敏感性为 84%，特异性为 81%。
在神经科门诊中确定了 DM2 诊断的显著预测因素。我们建立了一个易于管理的 DM2-EDS 评分，用于 DM2 的早期诊断。
