%0期刊文章%A Franken, Daniëlle K. %A Bouman, Karlijn %A Reumers, Stacha F. I. %A Braun, Frederik %A Spillane, Jennifer %A Pennings, Maartje %A Houwen, Saskia L.S. %A Erasmus, Corrie E. %A Schara-Schmidt, Ulrike %A Kamsteeg, Erik-Jan %A Jungbluth, Heinz %A Voermans, Nicol C. %T XL-MTM载体的神经肌肉特征%B未选择队列的横切研究%D 2022 %R 10.1212/WNL。背景和目的X-连锁肌管肌病(XL-MTM首页)是一种早期发作的先天性肌病，以男性个体轻度至重度肌肉无力为特征。目的是描述x连锁肌管病(XL-MTM)携带者神经肌肉特征的临床谱。我们在荷兰XL-MTM携带者中进行了一项全国范围的横断面研究，重点研究神经肌肉特征。参与者从荷兰的神经肌肉中心以及荷兰和欧洲患者协会招募。收集遗传结果。根据行走状态和肌肉无力对携带者进行分类。我们使用了一份专注于病史、家族史和神经肌肉症状的问卷。此外，我们还进行了神经系统检查，包括手动肌肉测试(MMT)、计时启动(TUG)测试和6分钟步行测试(6MWT)。结果我们纳入了21名携带者(20名基因确认携带者和1名专性携带者)，其中11名(52%)携带者被分类为明显的，严重的(非流动的;N = 2)，中度(轻度独立行走/辅助行走; n = 2), mild (independent ambulation but with limb or axial muscle weakness; n = 3), and minimal (only facial muscle weakness, n = 4) phenotypes. Three of the manifesting carriers (2 severe and 1 moderate) were from families without genetically confirmed male XL-MTM patients. Furthermore, 7 manifesting carriers (1 moderate; 2 mild; and 4 minimal) were not classified as manifesting carriers before participation in our study. Three carriers reported a history of pneumothorax. The obstetric history revealed frequent polyhydramnios (50%) and reduced fetal movements (36%) in pregnancies of affected sons. Muscle weakness was most pronounced in proximal and limb girdle muscles. Other frequently reported signs included (asymmetric) facial weakness (73%), reduced or absent deep tendon reflexes (45%), scoliosis (40%), and ptosis (45%). Ten participants (48%) were classified as nonmanifesting. Manifesting carriers had lower functional testing scores on 6MWT and TUG compared with nonmanifesting carriers.Discussion This study showed that 52% of an unselected group of XL-MTM carriers has muscle weakness (3 of whom were previously unclassified as manifesting). This corresponds to findings of our recent questionnaire study on self-reported symptoms in XL-MTM carriers. These observations should raise awareness of the neuromuscular manifestations of the XL-MTM carrier state and provide important epidemiologic information required for future clinical trials.6MWT=6-minute walking test; MMT=manual muscle testing; TUG=timed up and go test; XL-MTM=X-linked myotubular myopathy %U //www.ez-admanager.com/content/neurology/99/20/e2223.full.pdf