Friedrich-Baur-Institute, Department of Neurology, University Clinics Ludwig-Maximilians-University of Munich, Ziemssenstr. 1a, 80336, Munich, Germany.
Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
J Neurol. 2017 Dec;264(12):2472-2480. doi: 10.1007/s00415-017-8653-2. Epub 2017 Oct 30.
This study aims to provide a detailed clinical characterization of a large cohort of myotonic dystrophy type 2 (DM2) patients investigating the influence of age and gender as modifying factors of DM2 phenotype. A retrospective study was conducted on 307 patients with genetically confirmed DM2. The following data were analyzed: (1) demographics, (2) clinical features (first symptom, muscular complaints, and multisystemic involvement), (3) diagnostics (serological tests, electromyography, and muscle biopsy). In this cohort (186 females, 121 males), a proximal weakness was the leading symptom at onset (55.4%), followed by myalgia (35.5%) and myotonia (25.4%). Proximal weakness was more common in women than men (64.9 vs. 43.8%, p = 0.0006), whereas being male was associated with higher odds for developing myalgia [OR 2.94 (95% CI 1.53-5.67)]. Patients with muscle weakness at onset were older than those with myalgia and myotonia (p < 0.0001), while each additional disease year was associated with 10% decrease in the odds of developing myotonia [OR 0.9 (95% CI 0.87-0.93)] and 6% decrease of myalgia [OR 0.94 (95% CI 0.91-0.97)]. Cataract and thyroid diseases occurred more frequently in women (p = 0.002 and p = 0.002, respectively). Early onset of DM2 is an independent risk factor for the occurrence of multisystemic involvement [OR 0.94 (95% CI 0.90-0.98)]. In this updated clinical description of DM2 emerges a profound gender and age influence on the phenotype, emphasizing that female gender and ageing may be associated with a higher disease burden. These age- and gender-specific differences should be considered in diagnostics, management, and future clinical studies of DM2.
本研究旨在对大量肌强直性营养不良 2 型（DM2）患者进行详细的临床特征描述，以探讨年龄和性别作为 DM2 表型的修饰因素的影响。对 307 名经基因证实的 DM2 患者进行了回顾性研究。分析了以下数据：（1）人口统计学资料，（2）临床特征（首发症状、肌肉投诉和多系统受累），（3）诊断（血清学检查、肌电图和肌肉活检）。在这一组患者中（186 名女性，121 名男性），以近端无力为首发症状（55.4%），其次为肌痛（35.5%）和肌强直（25.4%）。女性近端无力的发生率高于男性（64.9%比 43.8%，p=0.0006），而男性发生肌痛的几率更高[比值比（OR）2.94（95%可信区间 1.53-5.67）]。首发肌肉无力的患者比首发肌痛和肌强直的患者年龄更大（p<0.0001），而每增加 1 年疾病病程，发生肌强直的几率降低 10%[OR 0.9（95%可信区间 0.87-0.93）]，肌痛的几率降低 6%[OR 0.94（95%可信区间 0.91-0.97）]。白内障和甲状腺疾病在女性中更为常见（p=0.002 和 p=0.002）。DM2 的早期发病是多系统受累的独立危险因素[OR 0.94（95%可信区间 0.90-0.98）]。在对 DM2 的这一更新的临床描述中，出现了明显的性别和年龄对表型的影响，强调了女性性别和衰老可能与更高的疾病负担相关。在 DM2 的诊断、管理和未来的临床研究中，应考虑这些年龄和性别特异性差异。
