Taenzler Dirk, Hause Frank, Merkenschlager Andreas, Sinz Andrea
Department of Pharmaceutical Chemistry and Bioanalytics, Martin Luther University Halle-Wittenberg, Halle (Saale), Germany.
Center for Structural Mass Spectrometry, Martin Luther University Halle-Wittenberg, Halle (Saale), Germany.
Mov Disord. 2025 Jun;40(6):1143-1147. doi: 10.1002/mds.30170. Epub 2025 Mar 13.
ADCY5-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.
The 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.
A 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.
Theophylline 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.
Theophylline 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.
腺苷酸环化酶5相关运动障碍是一种由ADCY5基因突变引起的罕见疾病，会导致异常的不自主运动。目前，尚无治疗这种疾病的标准化指南。
本研究的目的是评估使用茶碱治疗对改善腺苷酸环化酶5相关运动障碍患者的症状和生活质量的疗效。
进行了一项回顾性研究，纳入了12例年龄在2至41岁之间的腺苷酸环化酶5相关运动障碍患者。参与者完成了一份关于茶碱使用情况的问卷，包括剂量、症状改善情况、不良反应以及生活质量的变化。对报告的疗效和副作用数据进行了分析。
使用茶碱显示出显著疗效，92%（12例中的11例）的患者报告其运动障碍有显著改善。在10分制量表上，平均改善评分为7.0±1.9（均值±标准差）。显著改善包括发作的严重程度和频率降低、步态改善、行动更独立、心理社会幸福感增强以及睡眠质量提高。6例患者报告了不良反应，包括肌张力障碍、言语恶化、头痛、恶心、睡眠障碍和激动。
茶碱作为腺苷酸环化酶5相关运动障碍的一种治疗选择显示出巨大潜力，可改善患者生活质量和运动障碍症状的各个方面。需要进一步研究以优化给药剂量、了解长期效果并探索联合药物治疗。尽管本研究的队列规模较小且具有回顾性，但结果支持使用茶碱来减少运动障碍性运动并提高患者的整体生活质量。© 2025作者。《运动障碍》由Wiley Periodicals LLC代表国际帕金森和运动障碍协会出版。
