Kornblum Cornelia, Lutterbey Götz, Bogdanow Manuela, Kesper Kristina, Schild Hans, Schröder Rolf, Wattjes Mike Peter
Department of Neurology, University of Bonn, Sigmund-Freud-Strasse 25, 53105 Bonn, Germany.
J Neurol. 2006 Jun;253(6):753-61. doi: 10.1007/s00415-006-0111-5. Epub 2006 Mar 6.
Myotonic Dystrophy Type 1 (DM1) and 2 (DM2) present with distinct though overlapping clinical phenotypes. Comparative imaging data on skeletal muscle involvement are not at present available. We used the novel technique of whole body 3.0 Tesla (T) Magnetic Resonance Imaging (MRI) to further characterize musculoskeletal features in DM2 and compared the results with DM1.MRI findings of 15 DM1 and 14 DM2 patients were evaluated with respect to patterns of skeletal muscle affection and clinical data using the Muscular Impairment Rating Scale (MIRS) and Medical Research Council scale (MRC). All DM1 patients had pathological MRI compared with only 5 DM2 patients. In contrast to DM2, DM1 patients showed a characteristic distribution of muscle involvement with frequent and early degeneration of the medial heads of gastrocnemius muscles, and a perifemoral semilunar pattern of quadriceps muscle affection sparing the rectus femoris. The most frequently affected muscles in DM1 were the medial heads of gastrocnemius, soleus, and vastus medialis muscles. In DM2, however, the erector spinae and gluteus maximus muscles were most vulnerable to degeneration. MRI data were in line with the clinical grading in 12 DM1 and 3 DM2 patients. In 3 DM1 and 5 DM2 patients, MRI detected subclinical muscle involvement. 9 DM2 patients with mild to moderate proximal muscle weakness and/or myalgias had normal MRI. Pathological MRI changes in DM2 emerged with increasing age and were restricted to women. Whole body 3.0T MRI is a sensitive imaging technique that demonstrated a characteristic skeletal muscle affection in DM1. In contrast, MRI was no reliable indicator for skeletal muscle involvement in mildly affected DM2 patients since myalgia and mild paresis were usually not reflected by MRI signal alterations.
1型强直性肌营养不良(DM1)和2型强直性肌营养不良(DM2)具有不同但又有重叠的临床表型。目前尚无关于骨骼肌受累情况的对比影像学数据。我们采用全身3.0特斯拉(T)磁共振成像(MRI)新技术,进一步明确DM2的肌肉骨骼特征,并将结果与DM1进行比较。我们使用肌肉损伤评定量表(MIRS)和医学研究委员会量表(MRC),对15例DM1患者和14例DM2患者的MRI结果进行骨骼肌病变模式及临床数据评估。所有DM1患者的MRI均呈病理性改变,而DM2患者只有5例如此。与DM2不同,DM1患者的肌肉受累表现出特征性分布,腓肠肌内侧头肌频繁且早期发生退变,股四头肌呈股周半月形受累,股直肌未受累。DM1中最常受累的肌肉是腓肠肌内侧头、比目鱼肌和股内侧肌。然而,在DM2中,竖脊肌和臀大肌最易发生退变。12例DM1患者和3例DM2患者的MRI数据与临床分级一致。3例DM1患者和5例DM2患者中,MRI检测到亚临床肌肉受累情况。9例有轻度至中度近端肌无力和/或肌痛的DM2患者MRI正常。DM2的病理性MRI改变随年龄增长而出现,且仅限于女性。全身3.0T MRI是一种敏感的成像技术,可显示DM1特征性的骨骼肌受累情况。相比之下,对于轻度受累的DM2患者,MRI不是骨骼肌受累的可靠指标,因为肌痛和轻度轻瘫通常未通过MRI信号改变体现出来。