Leung Doris G, Carrino John A, Wagner Kathryn R, Jacobs Michael A
Center for Genetic Muscle Disorders, The Hugo W. Moser Research Institute, Kennedy Krieger Institute, 707 North Broadway, 400A, Baltimore, Maryland, 21205, USA.
Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Muscle Nerve. 2015 Oct;52(4):512-20. doi: 10.1002/mus.24569. Epub 2015 Mar 31.
INTRODUCTION: Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary disorder that causes progressive muscle wasting. Increasing knowledge of the pathophysiology of FSHD has stimulated interest in developing biomarkers of disease severity. METHODS: Two groups of MRI scans were analyzed: whole-body scans from 13 subjects with FSHD; and upper and lower extremity scans from 34 subjects with FSHD who participated in the MYO-029 clinical trial. Muscles were scored for fat infiltration and edema-like changes. Fat infiltration scores were compared with muscle strength and function. RESULTS: The analysis revealed a distinctive pattern of both frequent muscle involvement and frequent sparing in FSHD. Averaged fat infiltration scores for muscle groups in the legs correlated with quantitative muscle strength and 10-meter walk times. CONCLUSIONS: Advances in MRI technology allow for acquisition of rapid, high-quality, whole-body imaging in diffuse muscle disease. This technique offers a promising disease biomarker in FSHD and other muscle diseases.
引言：面肩肱型肌营养不良症（FSHD）是一种遗传性疾病，可导致进行性肌肉萎缩。对FSHD病理生理学认识的不断增加激发了人们对开发疾病严重程度生物标志物的兴趣。 方法：分析了两组MRI扫描结果：13名FSHD患者的全身扫描；以及参与MYO-029临床试验的34名FSHD患者的上肢和下肢扫描。对肌肉的脂肪浸润和水肿样改变进行评分。将脂肪浸润评分与肌肉力量和功能进行比较。 结果：分析揭示了FSHD中肌肉频繁受累和频繁 spared的独特模式。腿部肌肉群的平均脂肪浸润评分与定量肌肉力量和10米步行时间相关。 结论：MRI技术的进步使得在弥漫性肌肉疾病中能够快速获取高质量的全身成像。该技术为FSHD和其他肌肉疾病提供了一种有前景的疾病生物标志物。
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