Asthma Drug Reduces Movement Disorder Symptoms
Theophylline treatment reduces involuntary movements and improves quality of life in ADCY5-related dyskinesia patients.
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A study led by Martin Luther University Halle-Wittenberg (MLU) suggests that the asthma medication theophylline may help manage symptoms of ADCY5-related dyskinesia, a rare genetic movement disorder. Published in Movement Disorders, the research found that most patients experienced a notable reduction in involuntary movements and an improvement in quality of life during treatment.
Theophylline
A drug commonly used to treat asthma that has a chemical structure similar to caffeine and can affect neurological activity.
ADCY5-related dyskinesia and current treatment challenges
ADCY5-related dyskinesia is caused by a genetic mutation that leads to excessive production of a signaling molecule, resulting in twitching and uncontrolled movements that can begin in infancy. There is no known cure for this condition, which affects an estimated 400 people worldwide.
Theophylline as a potential therapy
Initial interest in theophylline followed reports of temporary symptom relief with caffeine in affected patients. Researchers sought a similar drug approved for pediatric use with longer-lasting effects. A pilot treatment of a five-year-old patient with theophylline led to significant improvements, including reduced muscle twitches, independent walking and clearer speech.
Study details and outcomes
To build on these findings, the MLU team assessed treatment outcomes in 12 patients from 7 countries, aged 2 to 41 years. Patients or their caregivers completed questionnaires about their experiences with theophylline therapy. 11 participants reported substantial improvements, with an average symptom reduction score of 7 out of 10. Reported benefits included fewer and less severe movement episodes, improved walking ability, enhanced psychosocial wellbeing and better sleep quality. Side effects were infrequent and mild. The oldest patient did not report noticeable changes.
Early treatment appeared especially beneficial; children who began theophylline soon after diagnosis showed better symptom control and developmental progress. One two-year-old patient treated immediately after diagnosis has not developed severe symptoms.
Future directions
Although theophylline is not a cure, it may offer an interim option to reduce symptoms and improve life quality, especially in children. The underlying genetic defect leads to abnormal signaling that could ultimately require gene therapy, but the timing and availability of such treatments remain uncertain. Further research is needed to optimize dosing and assess long-term effects.
Gene therapy
A medical approach that aims to correct genetic defects by introducing, removing, or altering genetic material within a patient’s cells.Reference: Taenzler D, Hause F, Merkenschlager A, Sinz A. Treatment Efficacy of Theophylline in ADCY5 ‐Related Dyskinesia: A Retrospective Case Series Study. Movement Disorders. 2025:mds.30170. doi: 10.1002/mds.30170
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