TY - T1的“议会du肱二头肌”dysferlinopathy JF -神经学乔-神经病学SP - 83 LP首页 - 84 - 10.1212 / WNL。0000000000008782六世- 94 - 2非盟-夏El Sherif AU -塔。拉夏s·侯赛因盟Ichizo Nishino Y1 - 2020/01/14 UR - //www.ez-admanager.com/content/94/2首页/83.abstract N2 - Eymard et al.1第一次描述了“议会du肱二头肌(肱二头肌的膨胀),球形外观选择性萎缩造成的远端一半的肱二头肌(BB)肌肉,dysferliniopathy患者。这个标志也被称为肱二头肌肿块。在我们的患者群24 dysferlinopathy(22和2无症状hyperCKemia症状),缺乏dysferlin所有确认的肌肉活检和通过在遗传分析DYSF突变的存在,除了4确诊病人只有在蛋白质水平。20名病人基因中证实,18比如3不同复发(c.342 + 1 g> c.755C> T, c.4431G> T)和3种不同的不再发生的(c。1958 delg, c。3944 _3948delinsg, c.5983_5984del)突变,2是复合杂合子突变不同于其他病人(c.2190dupA / c.3597G>和c.4101G> / c.6124C> T,分别)。值得注意的是,我们没有试图subclassify临床表型到三好肌病、LGMD2B / LGMD-R2 dysferlin最近相关文章表明是没有本质区别的肌肉参与的模式,因此,他们是相同的疾病。2 - 5 BB期间仔细观察收缩和放松来检查标志。上肢的功能(UL)评估使用英国医学研究理事会(MRC)的规模。此外,BB观察其他肌肉萎缩症患者组(118例DMD / BMD, sarcoglycanopathy 12例,FSHD 5例,LGMD2A 18例,和其他LGMDs 5例)。议会du肱二头肌在71%(17/24)的患者dysferlinopathy,包括2无症状的。 The UL MRC score was 4 or higher in the 17 patients who showed boule du biceps, but was 3+ or lower in the 7 patients who lacked the sign. None of the controls showed boule du biceps. MRI of the BB of the asymptomatic patient during arm flexion showed that the distal part of the short head was partially infiltrated by fat, whereas the long head and the proximal part of the short head were spared. MRI of the symptomatic patient showed moderate fat infiltration in the long head and in the distal part of the short head, whereas the proximal part of the short head was spared (figure). The sign was absent in patients with more marked muscle weakness, suggesting that even the proximal portion of the BB may be affected in the advanced stages and thus can no longer show contraction. Five of 7 patients who did not show boule du biceps were nonambulant, indicating that this sign disappears in advanced stage of the disease. Our findings suggest that the distal portion of the short head of the BB is affected even in early stages, whereas the proximal part is spared, which gives rise to boule du biceps. This can be a valuable diagnostic clinical feature for dysferlinopathy from early stages of the disease. ER -