Bilateral foot drop as presenting feature of facioscapulohumeral muscular dystrophy type 1

Martin Krenn; Veronika Vetchy; Gregor Kasprian; Wolfgang Grisold

doi:10.1016/j.ensci.2024.100546

Bilateral foot drop as presenting feature of facioscapulohumeral muscular dystrophy type 1

eNeurologicalSci. 2024 Dec 13:38:100546. doi: 10.1016/j.ensci.2024.100546. eCollection 2025 Mar.

Authors

Martin Krenn^{1

2}, Veronika Vetchy³, Gregor Kasprian³, Wolfgang Grisold⁴

Affiliations

¹ Department of Neurology, Medical University of Vienna, Vienna, Austria.
² Comprehensive Center for Clinical Neurosciences & Mental Health, Medical University of Vienna, Vienna, Austria.
³ Department of Biomedical Imaging and Image-guided Therapy, Medical University of Vienna, Vienna, Austria.
⁴ Ludwig Boltzmann Institute for Experimental und Clinical Traumatology, Vienna, Austria.

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.

Keywords: Electromyography; Facioscapulohumeral muscular dystrophy type 1; Genetic testing; Muscle MRI.