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Sialidosis type 1: examination of 19-year-old female

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Sialidosis type 1: examination of 19-year-old female

Examination shows mild myoclonus in the arms, especially at target and with action, and cerebellar signs (eg, overshooting). Gait was wide-based and frequently impacted by myoclonic jerks involving the legs, particularly on turning. (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].)

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