ArticleMovement disorders : official journal of the Movement Disorder Society2025
Treatment Efficacy of Theophylline in ADCY5-Related Dyskinesia: A Retrospective Case Series Study.
Article in Movement disorders : official journal of the Movement Disorder Society, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Distinct Brain Drivers and Shared Cerebello-Cortical Input in ADCY5 and SGCE Hyperkinetic Movements.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Psychiatric Disorders and Apathy in Mixed Movement Disorders Linked to ADCY5 (MxMD-ADCY5).Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Modulation of striatal cAMP levels: A key pathway in the treatment of hyperkinetic movement disorders.iScience · 2026Article
- Phytomedicines in preclinical and clinical research on antipsychotics-induced EPS/EPS-like behaviors: therapeutic effects and neurobiological mechanisms.Frontiers in psychiatry · 2026Review
- Mixed Movement Disorder Caused byCase reports in neurological medicine · 2026Article
- Update on Genetic Chorea.European journal of neurology · 2025Review
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Authors and funding
4 authors.
Funding
Abstract
backgroundADCY5-related dyskinesia is a rare disorder caused by mutations in the ADCY5 gene resulting in abnormal involuntary movements. Currently, there are no standardized guidelines to treat this condition.
objectiveThe aim of this study was to evaluate the efficacy of theophylline administration in improving symptoms and quality of life in patients with ADCY5-related dyskinesia.
methodsA retrospective study was conducted involving 12 patients (aged 2-41 years) with ADCY5-related dyskinesia. Participants completed a questionnaire about theophylline administration, including dosage, improvement of symptoms, adverse effects, and changes in quality of life. Data were analyzed for reported efficacy and side effects.
resultsTheophylline administration demonstrated substantial efficacy, with 92% (11 of 12) of patients reporting significant improvements in their movement disorders. The average improvement score was 7.0 ± 1.9 (mean ± SD) on a 10-point scale. Notable improvements included reductions in severity and frequency of episodes, improved gait, more independent mobility, psychosocial well-being, and quality of sleep. Adverse effects were reported by 6 patients, including dystonia, worsening of speech, headaches, nausea, impaired sleep, and agitation.
conclusionsTheophylline shows substantial promise as a treatment option for ADCY5-related dyskinesia, improving various aspects of patients' quality of life and movement disorder symptoms. Further research is needed to optimize dosing, to understand long-term effects, and to explore combinational drug therapies. Despite the small cohort size and the retrospective nature of this study, the results support theophylline administration to decrease dyskinetic movements and enhance overall quality of life in patients. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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