Efficacy of caffeine in adcy5-related dyskinesia: A retrospective study

Abstract

Background: ADCY5-related dyskinesia is characterized by early-onset movement dis-orders. There is currently no validated treatment, but anecdotal clinical reports and biological hypotheses suggest efficacy of caffeine.

Objective: The aim is to obtain further insight into the efficacy and safety of caffeine in patients withADCY5-related dyskinesia

Results: Caffeine was overall well tolerated, even in children, and 87% of patients reported a clear improvement. Caffeine reduced the frequency and duration of paroxysmal movement disorders but also improved. baseline movement disorders and some other motor and nonmotor features, with consistent quality-of-life improvement. Three patients reported worsening.

Methods: A retrospective study was conducted worldwide in 30 patients with a provenADCY5muta-tion who had tried or were taking caffeine for dyskinesia. Disease characteristics and treatment responses were assessed through a questionnaire

Conclusion: Our findings suggest that caffeine should be considered as a first-line therapeutic option inADCY5-related dyskinesia. © 2022 International Parkinson and Movement Disorder Society

Keywords

ADCY5, paroxysmal dyskinesia, caffeine, dystonia, hyperkinetic

Link to Publisher Version (URL)

10.1002/mds.29006

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