PT -期刊文章AU - Franken, Daniëlle K. AU - Bouman, Karlijn AU - Reumers, Stacha F. I. AU - Braun, Frederik AU - Spillane, Jennifer AU - Pennings, Maartje AU - Houwen, Saskia L.S. AU - Erasmus, Corrie E. AU - Schara-Schmidt, Ulrike AU - Kamsteeg, Erik-Jan AU - Jungbluth, Heinz AU - Voermans, Nicol C. TI - XL-MTM载体中的神经肌肉特征DP - 2022年11月15日TA -神经首页病学PG - e2223- e2233 VI - 99 IP - 20 4099 - //www.ez-admanager.com/content/99/20/e2223.short 4100 - //www.ez-admanager.com/content/99/20/e2223.full SO - Neurology2022 11月15日;背景和目的x -连锁肌管肌病(XL-MTM)是一种早期发病的先天性肌病，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)。Results We included 21 carriers (20 genetically confirmed and 1 obligate), of whom 11 (52%) carriers were classified as manifesting, with severe (nonambulatory; n = 2), moderate (minimal independent ambulation/assisted ambulation; 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

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