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Whole-body muscle MRI in McArdle disease
Neuromuscular Disorders ( IF 2.8 ) Pub Date : 2021-08-05 , DOI: 10.1016/j.nmd.2021.07.397
David Tobaly 1 , Pascal Laforêt 2 , Tanya Stojkovic 3 , Anthony Behin 4 , Francois Michael Petit 5 , Andrea Barp 6 , Luca Bello 6 , Pierre Carlier 7 , Robert-Yves Carlier 8
Affiliation  

This study describes muscle involvement on whole-body MRI (WB-MRI) scans at different stages of McArdle disease. WB-MRI was performed on fifteen genetically confirmed McArdle disease patients between ages 25 to 80. The degree of fatty substitution was scored for 60 muscles using Mercuri's classification. All patients reported an intolerance to exercise and episodes of rhabdomyolysis. A mild fixed muscle weakness was observed in 13/15 patients with neck flexor weakness in 7/15 cases, and proximal muscle weakness in 6/15 cases. A moderate scapular winging was observed in five patients. A careful review of the MRI scans, as well as hierarchical clustering of patients by Mercuri scores, pointed out recurrent muscle changes particularly in the subscapularis, anterior serratus, erector spinae and quadratus femoris muscles. WB-MRI imaging provides clinically relevant information and is a useful tool to orient toward the diagnosis of McArdle disease.



中文翻译:

麦卡德尔病的全身肌肉 MRI

本研究描述了 McArdle 病不同阶段全身 MRI (WB-MRI) 扫描的肌肉受累情况。WB-MRI 对 15 名年龄在 25 至 80 岁之间经基因确认的麦卡德尔病患者进行。使用 Mercuri 分类对 60 块肌肉的脂肪替代程度进行评分。所有患者都报告了对运动的不耐受和横纹肌溶解症的发作。13/15 例患者出现轻度固定肌无力,7/15 例颈部屈肌无力,6/15 例近端肌无力。在 5 名患者中观察到中度肩胛翼。仔细审查 MRI 扫描以及通过 Mercuri 评分对患者进行的分层聚类,指出复发性肌肉变化,特别是在肩胛下肌、前锯肌、竖脊肌和股方肌中。

更新日期:2021-08-05
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