@文章{Frankene2223，作者= {Franken, Dani{\"e}lle K. and Bouman, Karlijn and Reumers, Stacha F. I. and Braun, Frederik and Spillane, Jennifer and Pennings, Maartje and Houwen, Saskia L.S. and Erasmus, Corrie e . and schra - schmidt, Ulrike and Kamsteeg, Erik-Jan and Jungbluth, Heinz and Voermans, Nicol C.}，标题= {XL-MTM载体中的神经肌肉特征}，卷={99}，编号={20}，页数= {e2223—e2233}，年= {2022}，doi = {10.1212/WNL。0000000000201084}，出版商= {Wolters Kluwer Health, Inc.代表美国神经病学学会}，摘要={背景和目的x -连锁肌管肌病(XL-MTM)是一种早期发作的半岛投注体育官网先天性肌病，其特征是男性个体轻度至重度肌肉无力。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例携带者(20例基因确诊，1例专性)，其中11例(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}, issn = {0028-3878}, URL = {//www.ebmtp.com/content/99/20/e2223}, eprint = {//www.ebmtp.com/content/99/20/e2223.full.pdf}, journal = {Neurology} }