Radboud university medical center, Donders Institute for Brain, Cognition and Behaviour, Department of Rehabilitation, Nijmegen, The Netherlands.
Radboud university medical center, Donders Institute of Brain, Cognition and Behaviour, Department of Neurology, Nijmegen, the Netherlands.
Muscle Nerve. 2022 Oct;66(4):453-461. doi: 10.1002/mus.27679. Epub 2022 Aug 12.
INTRODUCTION/AIMS: Oculopharyngeal muscular dystrophy (OPMD) is a late-onset, progressive muscle disease. Quantitative muscle ultrasound (QMUS) assesses structural changes in muscles and is a sensitive biomarker in neuromuscular disorders. Our aim of this study was to determine whether QMUS can detect muscle pathology and can be used as longitudinal imaging biomarker in OPMD.
Genetically confirmed OPMD patients, recruited by their treating physicians or from the national neuromuscular database, were examined twice, 20 months apart, using QMUS of orofacial and limb muscles, and measurements of functional capacity and muscle strength. Absolute echo intensity (AEI) and muscle thickness of all muscles were analyzed and correlated with clinical data.
The tongue, deltoid, iliopsoas, rectus femoris, and soleus muscles showed increased AEI at baseline compared with normal values in 43 OPMD patients, with the rectus femoris being most often affected (51%).The AEI and muscle thickness of 9 of 11 muscles correlated significantly with the motor function measure, 10-step stair test, swallowing capacity, dynamometry, Medical Research Council grade, tongue strength, and bite force (r = 0.302 to -0.711). Between baseline and follow-up, deterioration in AEI was found for the temporalis, tongue, and deltoid muscles, and decreased muscle thickness was detected for the temporalis, masseter, digastric, tongue, deltoid, iliopsoas, and soleus muscles (P < .05). No relation was found between the change in AEI and repeat length or disease duration.
QMUS detected muscle pathology and disease progression in OPMD over 20 months. We conclude that QMUS should be considered as a biomarker in treatment trials.
简介/目的：眼咽型肌营养不良症（OPMD）是一种迟发性、进行性肌肉疾病。定量肌肉超声（QMUS）可评估肌肉的结构变化，是神经肌肉疾病的一种敏感生物标志物。本研究旨在确定 QMUS 是否可以检测肌肉病理学，并可作为 OPMD 的纵向成像生物标志物。
通过其治疗医生或国家神经肌肉数据库招募的遗传性 OPMD 患者，在 20 个月的时间间隔内，使用 QMUS 对口腔和肢体肌肉进行两次检查，并对功能能力和肌肉力量进行测量。分析所有肌肉的绝对回波强度（AEI）和肌肉厚度，并与临床数据相关联。
43 名 OPMD 患者的舌、三角肌、髂腰肌、股直肌和比目鱼肌的 AEI 在基线时高于正常值，其中股直肌最常受累（51%）。11 块肌肉中的 9 块肌肉的 AEI 和肌肉厚度与运动功能测量、10 步上楼梯测试、吞咽能力、肌力、医学研究委员会等级、舌力和咬合力显著相关（r=0.302 至-0.711）。在基线和随访之间，发现颞肌、舌和三角肌的 AEI 恶化，而颞肌、咬肌、二腹肌、舌、三角肌、髂腰肌和比目鱼肌的肌肉厚度减少（P<.05）。AEI 的变化与重复长度或疾病持续时间之间没有关系。
QMUS 在 20 个月内检测到 OPMD 的肌肉病理学和疾病进展。我们得出结论，QMUS 应被视为治疗试验中的生物标志物。
