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

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Caffeine effectively managed paroxysmal dyskinesia in a patient with Mixed Movement Disorder due to ADCY5 gene variants (MxMD-ADCY5). High-dose caffeine treatment showed significant improvement with no adverse effects over six months.

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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.