Dubowitz Neuromuscular Centre, Institute of Child Health, London, United Kingdom.
Ann Neurol. 2010 Feb;67(2):201-8. doi: 10.1002/ana.21846.
The aim of the study was to evaluate whether the visual analysis of muscle magnetic resonance imaging scans can identify specific patterns of muscle involvement.
We assessed scans from 83 patients with muscle disorders characterized by rigidity of the spine secondary to mutations in 4 different genes. The conditions studied were rigid spine syndrome (SEPN1 defects), Bethlem myopathy, and Ullrich congenital muscular dystrophy, allelic disorders caused by Col6A1, Col6A2, and Col6A3 mutations, the autosomal dominant form of Emery-Dreifuss muscular dystrophy (LMNA defects) and calpain-deficient limb girdle muscular dystrophy (CAPN3 defects). The scans of 25 patients affected by other myopathies were also reviewed as a control group. The scans were compared with the previously described patterns.
In 82% of the scans in the study group (68/83) the patterns were classified as "typical" of 1 of the 5 forms studied, and in 7 (8%) were consistent with 1 of the reported patterns but not entirely typical. With one exception, the patterns identified were always consistent with the appropriate genetic diagnosis. The remaining scans (9%) had only minimal changes and were uninformative. None of the scans of the 25 patients in the control group had patterns that could be classified as typical of the 5 forms examined. The sensitivity to detect selective patterns in relation to the genetic diagnosis was 0.9.
These findings suggest that muscle magnetic resonance imaging could be used in clinical practice as an additional tool in the differential diagnosis of muscle disorders with prominent spinal rigidity.
本研究旨在评估肌肉磁共振成像扫描的视觉分析是否能识别出特定的肌肉受累模式。
我们评估了 83 名肌肉疾病患者的扫描图像，这些患者的脊柱僵硬是由 4 种不同基因突变引起的。研究的疾病包括刚性脊柱综合征（SEPN1 缺陷）、Bethlem 肌病和 Ullrich 先天性肌肉营养不良症（由 Col6A1、Col6A2 和 Col6A3 基因突变引起的等位基因疾病）、常染色体显性形式的 Emery-Dreifuss 肌肉营养不良症（LMNA 缺陷）和钙蛋白酶缺乏性肢体带肌病（CAPN3 缺陷）。还回顾了 25 名患有其他肌病患者的扫描图像作为对照组。将扫描图像与先前描述的模式进行比较。
在研究组的 82%（68/83）的扫描图像中，模式被分类为 5 种研究形式中的 1 种“典型”模式，在 7%（6/83）中与 1 种报道的模式一致但不完全典型。除 1 例外，所识别的模式始终与适当的基因诊断一致。其余扫描图像（9%）仅显示微小变化，无信息。对照组 25 名患者的扫描图像均无可归类为 5 种检查形式中“典型”的模式。与遗传诊断相关的选择性模式的检测灵敏度为 0.9。
这些发现表明，肌肉磁共振成像可以在临床实践中作为一种额外的工具，用于诊断具有明显脊柱僵硬的肌肉疾病。
