Sialidosis type 1: examination of 40-year-old male

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Sialidosis type 1: examination of 40-year-old male

The patient was evaluated before and 45 minutes after administration of sodium oxybate (gamma-hydroxybutyrate) 1 gm. The two recordings are presented side-by-side to show the dramatic improvement after medication administration. At baseline, he had frequent volleys of resting, postural, and action myoclonus in the arms, especially in proximity to a target, which adversely affected activities like pouring water from a cup. After administration of sodium oxybate, postural and action myoclonus improved, allowing faster and smoother execution of different tasks. (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].)