Repurposing Asthma Medication for Treating Rare Neurological Disorder ADCY5-Related Dyskinesia

Recent research from Martin Luther University Halle-Wittenberg (MLU) suggests that the asthma drug theophylline may be an effective treatment for ADCY5-related dyskinesia, a rare and debilitating neurological disorder. Published in the journal Movement Disorders, the study highlights promising improvements in symptoms and quality of life among affected patients.

ADCY5-related dyskinesia is caused by a rare genetic mutation that leads to abnormal twitching and uncontrolled movements, often beginning in infancy. Currently, there are no cures for this disorder, and treatments have been limited in effectiveness.

The investigation was sparked by prior observations that caffeine, which shares chemical similarities with theophylline, could temporarily alleviate symptoms. In a pilot study involving a young patient who was wheelchair-bound, theophylline treatment resulted in significant symptom reduction. The patient gained mobility and speech clarity after several months of therapy.

Expanding on this initial success, researchers conducted a broader study involving 12 patients aged 2 to 41 from seven countries. The participants, who have an estimated total of around 400 cases worldwide, were administered theophylline and monitored through questionnaires. The majority of patients experienced notable improvements; 11 reported decreased intensity and frequency of involuntary movements, better gait, enhanced sleep, and improved psychosocial well-being. Side effects were generally mild and infrequent, including headaches, nausea, and restlessness. The only participant who did not show significant benefits was the oldest, aged 41.

Professor Andrea Sinz underscored the importance of timely intervention, noting that early treatment can potentially help children reach developmental milestones more fully. For instance, some parents reported their children catching up developmentally after starting theophylline. Sinz emphasized, however, that the medication is not a cure, as ADCY5 dyskinesia stems from a genetic defect leading to overproduction of certain messenger substances. Eventually, gene therapy may provide a definitive cure, but it remains under development.

The findings suggest theophylline could serve as a valuable interim therapy, offering symptom relief and improved life quality for patients until more targeted treatments become available. Future studies aim to optimize dosage and further assess long-term effectiveness.

For more information, see the study: Dirk Taenzler et al, 'Treatment Efficacy of Theophylline in ADCY5‐Related Dyskinesia: A Retrospective Case Series Study,' Movement Disorders (2025).