Laing肌病的特征是广泛的临床和病理变异性。它们在数量和研究方案上是有限的。我们旨在描绘肌肉成像轮廓,并验证成像分析作为一种结果测量。
这是一项横断面和纵向队列研究。来自临床的数据,研究了功能和半定量肌肉成像(60次磁共振成像[MRI]和6次计算机断层扫描)。层次分析法,使用贝叶斯统计进行图形热图表示和影像学和临床数据之间的相关性。
研究队列包括来自13个家庭的42名患者,这些患者有5个MYH7突变。这群人的年龄范围很广,发病年龄,疾病持续时间,和肌病扩展和Gardner-Medwin和Walton(GMW)功能评分。除两名无症状/有症状的患者外,肌内脂肪均明显。在12%的患者中,小腿前室肌肉是唯一受影响的肌肉。广泛延伸到大腿,臀部,椎旁和小腿肌肉,不那么频繁,通常观察到肩肱骨肌,描绘不同的模式和进展速度。40%的患者受累于足部肌肉,与其他区域平行进化,没有近邻梯度。整体累积成像评分,4个中的0到2.9个,与疾病持续时间,肌病扩展和GMW量表相关。在24例患者中进行的后续MRI研究显示,评分以可变的速率显着进展。
我们证实,在Laing肌病中,小腿前室受到系统性影响,可能是这种疾病的唯一表现。然而,经常观察到广泛的肌肉参与优先但可变而不是距离依赖的模式。影像学评分分析可用于对患者进行分类并跟踪疾病随时间的进展。
Laing myopathy is characterized by broad clinical and pathological variability. They are limited in number and protocol of
study. We aimed to delineate muscle imaging profiles and validate imaging analysis as an outcome measure.
This was a cross-sectional and longitudinal cohort
study. Data from clinical, functional and semi-quantitative muscle imaging (60 magnetic resonance imaging [MRI] and six computed tomography scans) were studied. Hierarchical analysis, graphic heatmap representation and correlation between imaging and clinical data using Bayesian statistics were carried out.
The
study cohort comprised 42 patients from 13 families harbouring five MYH7 mutations. The cohort had a wide range of ages, age at onset, disease duration, and myopathy extension and Gardner-Medwin and Walton (GMW) functional scores. Intramuscular fat was evident in all but two asymptomatic/pauci-symptomatic patients. Anterior leg compartment muscles were the only affected muscles in 12% of the patients. Widespread extension to the thigh, hip, paravertebral and calf muscles and, less frequently, the scapulohumeral muscles was commonly observed, depicting distinct patterns and rates of progression. Foot muscles were involved in 40% of patients, evolving in parallel to other regions with absence of a disto-proximal gradient. Whole cumulative imaging score, ranging from 0 to 2.9 out of 4, was associated with disease duration and with myopathy extension and GMW scales. Follow-up MRI studies in 24 patients showed significant score progression at a variable rate.
We confirmed that the anterior leg compartment is systematically affected in Laing myopathy and may represent the only manifestation of this disorder. However, widespread muscle involvement in preferential but variable and not distance-dependent patterns was frequently observed. Imaging score analysis is useful to categorize patients and to follow disease progression over time.