Mixed Movement Disorder Caused by ADCY5 Pathogenic Variant Successfully Treated With Caffeine: A Case From Ukraine

Area of Science:

• Neurology
• Genetics
• Pharmacology

Background:

• Mixed Movement Disorder due to pathogenic variants in the ADCY5 gene (MxMD-ADCY5) is rare.
• Characterized by choreiform movements, dystonia, myoclonus, speech disturbances, and developmental delays.
• Limited treatment options exist, but caffeine shows promise for managing dyskinesia.

Purpose of the Study:

• To report a case of MxMD-ADCY5 with a significant response to caffeine.
• To present the first reported Ukrainian patient with MxMD-ADCY5 treated with high-dose caffeine.
• To highlight caffeine's therapeutic potential in managing paroxysmal dyskinesia.

Main Methods:

• Clinical case report.
• Administration of high-dose caffeine (600 mg daily).
• Follow-up of at least 6 months.

Main Results:

• Significant clinical improvement in paroxysmal dyskinesia observed.
• High therapeutic response to caffeine in an adult patient.
• No adverse events or side effects reported during the follow-up period.

Conclusions:

• High-dose caffeine (600 mg daily) is a safe and effective treatment for MxMD-ADCY5.
• Caffeine significantly improved symptoms in the reported Ukrainian patient.
• This case supports caffeine as a viable therapeutic option for managing dyskinesia in MxMD-ADCY5.