Sialidosis type 1: examination of 31-year-old male

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Sialidosis type 1: examination of 31-year-old male

Postural and action myoclonus are present in the arms, most prominently in proximity to a target and with different tasks like drawing spirals and pouring water. Also present were stimulus-sensitive myoclonus to pin, enhanced startle to unexpected sounds while walking, and impaired tandem gait. (Source: Riboldi GM, Martone J, Rizzo JR, Hudson TE, Rucker JC, Frucht SJ. Looking "cherry red spot myoclonus" in the eyes: clinical phenotype, treatment response, and eye movements in sialidosis type 1. Tremor Other Hyperkinet Mov (NY) 2021;11:53. Creative Commons Attribution 4.0 International License [CC BY 4.0].)