Muscular involvement assessed by MRI correlates to motor function measurement values in oculopharyngeal muscular dystrophy
Muscular involvement assessed by MRI correlates to motor function measurement values in oculopharyngeal muscular dystrophy
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DOI：
10.1007/s00415-011-5937-9
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发表时间：
2011-07-01
影响因子：
6
通讯作者：
Fischer, Dirk
中科院分区：
文献类型：
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作者：
Fischmann, Arne;Gloor, Monika;Fischer, Dirk
眼咽肌营养不良症（OPMD）是一种进行性骨骼肌营养不良症，以下垂、吞咽困难和上下肢无力为特征。我们检查了 8 名基因确诊的 OPMD 患者，以检测 MRI 模式并使用经过验证的临床评估方法关联肌肉受累情况。使用运动功能测量（MFM）量表进行身体评估。我们在 1.5 T 扫描仪上对下肢进行成像。脂肪替代按照 4 分视觉等级进行分级。我们发现大腿的内收肌和腿筋肌肉以及小腿的比目鱼肌和腓肠肌受到明显影响。 MFM评估显示临床损伤相对轻微，主要影响站立和转移，而远端运动能力几乎不受影响。我们观察到经过验证的临床评分与我们的视觉成像评分之间存在高度（负）相关性，这表明定量且更客观的肌肉 MRI 可以作为肌营养不良症临床试验的结果衡量标准。
Oculopharyngeal muscular dystrophy (OPMD) is a progressive skeletal muscle dystrophy characterized by ptosis, dysphagia, and upper and lower extremity weakness. We examined eight genetically confirmed OPMD patients to detect a MRI pattern and correlate muscle involvement, with validated clinical evaluation methods. Physical assessment was performed using the Motor Function Measurement (MFM) scale. We imaged the lower extremities on a 1.5 T scanner. Fatty replacement was graded on a 4-point visual scale. We found prominent affection of the adductor and hamstring muscles in the thigh, and soleus and gastrocnemius muscles in the lower leg. The MFM assessment showed relative mild clinical impairment, mostly affecting standing and transfers, while distal motor capacity was hardly affected. We observed a high (negative) correlation between the validated clinical scores and our visual imaging scores suggesting that quantitative and more objective muscle MRI might serve as outcome measure for clinical trials in muscular dystrophies.