Department of Neurology, Maastricht University Medical Centre+, P. Debyelaan 25, Maastricht 6229 HX, the Netherlands; Mental Health and Neuroscience Research Institute, Maastricht University, Universiteitssingel 40, Maastricht 6229 ER, the Netherlands.
Department of Neurology, Maastricht University Medical Centre+, P. Debyelaan 25, Maastricht 6229 HX, the Netherlands; Mental Health and Neuroscience Research Institute, Maastricht University, Universiteitssingel 40, Maastricht 6229 ER, the Netherlands.
Neuromuscul Disord. 2024 Oct;43:44-52. doi: 10.1016/j.nmd.2024.08.005. Epub 2024 Aug 17.
Myotonic dystrophy type 1 (DM1) is a heterogeneous neuromuscular disorder characterized by progressive muscle weakness and myotonia. This study investigates the progression of muscular strength and function over a four-year period. Patients with DM1 were examined at baseline and four years later. The following metrics were assessed over time: muscle strength (Medical Research Council-sumscore), hand-grip strength (Martin-Vigorimeter), hand-grip relaxation time (myotonia), and limitations in activities of daily living and (DM1Activ questionnaire). A total of 648 patients entered the registry. Recruitment and follow-up is ongoing. In our manuscript, we focus on, 187 patients who were followed for 4 years. A significant decline in MRC sum score was observed, with distal muscles showing more deterioration. Hand-grip strength decreased significantly, with notable differences between sex and phenotype classified by disease onset. Surprisingly, an improvement of myotonia was observed. Follow-up analysis revealed a significant interaction between myotonia and grip-strength over time. Thus, the improvement in myotonia is likely explained by decreased in grip strength. Finally, there was a significant reduction in DM1Activ score, indicating decreased activity and social participation. This study demonstrated variability in disease progression depending on sex, phenotype and disease status. This research demonstrates a nuanced pattern of disease progression, highlighting the need to combine different outcome measures to fully understand the complexity of DM1.
肌强直性营养不良 1 型（DM1）是一种异质性神经肌肉疾病，其特征为进行性肌肉无力和肌强直。本研究旨在探讨肌肉力量和功能在四年内的进展情况。DM1 患者在基线和四年后接受检查。以下指标随时间进行评估：肌肉力量（修订版医学研究委员会量表总分）、手握力（马丁握力计）、手握力放松时间（肌强直）、日常生活活动受限情况（DM1Activ 问卷）。共有 648 名患者入组该登记研究。目前正在招募患者并进行随访。在我们的研究中，我们重点关注了随访 4 年的 187 名患者。观察到 MRC 总分显著下降，远端肌肉恶化更为明显。手握力显著下降，且在根据发病时间进行性别和表型分类时存在显著差异。令人惊讶的是，肌强直也有所改善。随访分析显示，肌强直和握力之间存在显著的交互作用。因此，握力的下降可能解释了肌强直的改善。最后，DM1Activ 评分显著降低，表明活动和社会参与减少。本研究表明，疾病进展的差异取决于性别、表型和疾病状态。这项研究展示了疾病进展的多样化模式，强调需要结合不同的结局指标，以全面理解 DM1 的复杂性。
