Teaching Video NeuroImages: Facial myokymia and myorhythmia in anti-IgLON5 disease

Abstract

A 79-year-old woman presented with an 8-month history of parasomnia and progressive bulbar syndrome with dysarthria, dysphagia, facial myokymia, and mandibular myorhythmia (video 1) resulting in biting scars of her lower lip. Brain MRI and EEG were unremarkable. CSF analysis showed intrathecal antibody synthesis and elevated tau 372 pg/mL (0–320 pg/mL) and phospho-tau 54 pg/mL (0–50 pg/mL). Antibodies against IgLON5 were highly positive (1:1,000) in CSF and serum. Anti-IgLON5 disease was diagnosed.1 Recognition of bulbar symptoms with myokymia and myorhythmia as part of an anti-IgLON5 disease may be important to start early immunotherapy to prevent progression to neurodegeneration.2