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首页> 外文期刊>The Canadian Journal of Neurological Sciences: le Journal Canadien des Sciences Neurologiques >GP.03 Diagnostic yield of next generation sequencing and myositis autoantibody panels in patients with axial myopathy
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GP.03 Diagnostic yield of next generation sequencing and myositis autoantibody panels in patients with axial myopathy

机译：轴向肌病患者下一代测序和肌炎自身抗体面板的诊断产量

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Background: Axial myopathy is a rare neuromuscular disorder of variable etiology characterised by preferential involvement of the paraspinal muscles. We reviewed clinical features of patients with axial myopathies and the diagnostic yield of myositis-associated antibodies and targeted next generation sequencing panels. Methods: We performed a retrospective review of patients presenting with axial myopathy at the Montreal Neurological Hospital from 2011-2018. Data collection included clinical presentation, disease course, results of electromyography, imaging, laboratory and genetic testing, and histopathology on muscle biopsy. Results: Twenty-five patients were identified. Initial manifestation of axial weakness was head drop (15), camptocormia (8), and rigid spine (2). Autoimmune myositis was diagnosed in 9 patients, seropositive in 7 out of 7 tested for myositis-associated antibodies. Genetic testing was consistent with oculopharyngeal muscular dystrophy in one patient and RYR-1 (ryanodine receptor 1) related core myopathy in another. Local radiotherapy or spine surgery preceded the onset of axial weakness in 1 and 6 patients, respectively. Muscle biopsies were available in 17 patients and revealed myopathic changes (16), inflammatory changes (6), and myopathy with vacuoles (3). Conclusions: Recent advancements in genetic and antibody testing, combined with paraspinal muscle biopsy, allow for more precise classification and identification of potentially treatable axial myopathies.
机译：背景：轴向肌病是一种罕见的神经肌肉病症，其特征是通过肩胛骨的优先参与。我们审查了轴向肌病患者的临床特征以及肌炎相关抗体的诊断产量和靶向下一代测序板。方法：从2011 - 2018年从蒙特利尔神经系统医院进行轴向肌病患者对患者进行了回顾性审查。数据收集包括临床介绍，疾病课程，肌电图，成像，实验室和遗传检测结果，以及肌肉活检的组织病理学。结果：确定了二十五名患者。轴向弱性的初始表现为头部下降（15），封闭因素（8）和刚性脊柱（2）。自身免疫性肌炎被诊断为9名患者，7例7中的7例，用于肌炎相关抗体。遗传检测与一个患者和RYR-1（ryanodine受体1）相关的核心肌病在另一个患者中的血管肌营养不良症一致。局部放射疗法或脊柱手术在1和6名患者的起始轴向弱点之前。 17名患者提供肌肉活检，揭示了近视肌病变化（16），炎症变化（6），肌疗法（3）。结论：遗传和抗体检测的最新进展，结合肩胛骨活组织检查，允许更精确的分类和鉴定可能可治疗的轴向肌病。

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