Relative Efficacy of Self-Managed Caffeine Supplementation in Maintaining Daily Activity in a Patient with ADCY5-Related Dyskinesia: A Case Report
Abstract
Abstract Introduction ADCY5-related dyskinesia is an autosomal dominant movement disorder with limited treatment options because many standard medications are ineffective. Caffeine has shown efficacy in ADCY5-related dyskinesia as an adenosine A2A receptor antagonist, but optimal dosing remains uncertain. Case Presentation We report a 24-year-old woman with paroxysmal dyskinesia since early childhood, consisting of chorea, dystonia, and myoclonus upon waking. More than 15 medications failed. Whole-exome sequencing identified a mosaic ADCY5 variant (p.R418Q, 7% variant allele frequency). Caffeine escalation from 100 to 600 mg worsened symptoms. Four months later, she found that unsweetened canned coffee containing approximately 100 mg of caffeine per can, taken 1–3 times daily, reduced her symptoms and helped her maintain daily employment. In a self-controlled analysis of 39 coffee-intake events, dyskinesia episodes during the 6 h after coffee intake were significantly fewer than during the preceding 6 h (p = 0.002). Conclusion This case demonstrates successful symptom control in ADCY5-related dyskinesia using patient-directed, low-dose caffeine therapy. The striking response suggests a narrow therapeutic window for caffeine in this condition and that patient self-titration may be valuable in optimizing treatment response.
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Evidence Hub reads this as a case report, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
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