双侧足下垂作为1型面肩肱型肌营养不良的首发症状
Bilateral foot drop as presenting feature of facioscapulohumeral muscular dystrophy type 1.
作者信息
Krenn Martin, Vetchy Veronika, Kasprian Gregor, Grisold Wolfgang
机构信息
Department of Neurology, Medical University of Vienna, Vienna, Austria.
Comprehensive Center for Clinical Neurosciences & Mental Health, Medical University of Vienna, Vienna, Austria.
出版信息
eNeurologicalSci. 2024 Dec 13;38:100546. doi: 10.1016/j.ensci.2024.100546. eCollection 2025 Mar.
Abstract
•FSHD1 may present with bilateral foot drop in adulthood.•Clinical examination, EMG and muscle MRI may additionally guide genetic testing.•Targeted genetic testing is crucial in atypical cases, particularly in light of new therapies.
摘要
•面肩肱型肌营养不良1型（FSHD1）在成年期可能表现为双侧足下垂。
•临床检查、肌电图（EMG）和肌肉磁共振成像（MRI）可能有助于指导基因检测。
•在非典型病例中，尤其是考虑到新疗法，靶向基因检测至关重要。
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