Solorzano-Flores Sinthia-Yadira, Soto-Fajardo Carina, Ángeles-Acuña Abish, Carranza-Enriquez Fabián, Escobar-Cedillo Rosa Elena, León-Hernandez Saúl-Renán, Sandoval Hugo, Torres-Ruiz Jiram, Pineda Carlos
Rheumatology Department, Instituto Nacional de Rehabilitación Luis Guillermo Ibara Ibarra, Ciudad de México, México.
Electromyography and Muscular Dystrophy Service, Instituto Nacional de Rehabilitación Luis Guillermo Ibarra Ibarra, Ciudad de México, México.
Rheumatol Int. 2024 Dec;44(12):2829-2836. doi: 10.1007/s00296-024-05721-2. Epub 2024 Sep 18.
Idiopathic inflammatory myopathies (IIM) are a heterogeneous group of diseases that are characterized by inflammation and muscle weakness. Dysferlinopathies are autosomal recessive limb-girdle muscular dystrophies caused by mutations in DYSF, which share a similar clinical presentation and histopathological inflammatory changes. To determine the sonographic differences between dysferlinopathies and IIM and whether these differences allow their classification. This observational, cross-sectional, and analytical study evaluated 20 muscles from 11 patients with dysferlinopathies and 11 patients with IIM. The patients were matched for age, sex, and disease duration. Clinical and laboratory variables were analyzed. Semi-quantitative scales were used to weigh the gray scale and power Doppler muscle abnormalities. Descriptive statistics were computed and discriminant analysis was performed to determine the ultrasound variables that best predicted the final diagnosis. Forty muscles were evaluated. Atrophy and higher Heckmatt scale scores were observed in patients with dysferlinopathies. A set of three muscles (biceps/brachialis, quadriceps, and gastrocnemius) had a diagnostic accuracy of 100% (sensitivity, 100%; specificity, 100%; canonical coefficient, 0.733 p < 0.001). A set of two formulas was used to classify both diseases correctly. In the present study, scanning of three muscle groups showed high diagnostic accuracy in differentiating dysferlinopathies from MII. Ultrasound can be used as an initial test in patients with suspected muscle disease or as an additional tool to support diagnosis in controversial cases.
特发性炎性肌病(IIM)是一组异质性疾病,其特征为炎症和肌肉无力。肌膜蛋白病是由DYSF基因突变引起的常染色体隐性遗传性肢带型肌营养不良症,其临床表现和组织病理学炎症变化相似。目的是确定肌膜蛋白病和IIM之间的超声差异,以及这些差异是否有助于对它们进行分类。这项观察性、横断面分析研究评估了11例肌膜蛋白病患者和11例IIM患者的20块肌肉。患者在年龄、性别和病程方面进行了匹配。分析了临床和实验室变量。使用半定量量表对肌肉的灰阶和能量多普勒异常进行评估。计算描述性统计量,并进行判别分析以确定最能预测最终诊断的超声变量。共评估了40块肌肉。在肌膜蛋白病患者中观察到萎缩和更高的赫克马特量表评分。一组三块肌肉(肱二头肌/肱肌、股四头肌和腓肠肌)的诊断准确率为100%(敏感性为100%;特异性为100%;典型系数为0.733,p < 0.001)。使用一组两个公式可正确分类这两种疾病。在本研究中,扫描三组肌肉在区分肌膜蛋白病和IIM方面显示出较高的诊断准确率。超声可作为疑似肌肉疾病患者的初始检查,或作为有争议病例中支持诊断的辅助工具。