Objective: To describe the clinical outcomes of globus pallidus internus deep brain stimulation (DBS-GPi) in three patients with genetically confirmed ADCY5 mutation.

Background: ADCY5 dyskinesia is a rare hyperkinetic disorder characterized by variable abnormal movements. It is often associated with paroxysmal dyskinesia and worsens around sleep onset or awakening, and may be triggered by infections, fatigue, or stress. Symptoms usually appear early in life. To date, the therapeutic efficacy of deep brain stimulation in ADCY5-related dyskinesia has not been comprehensively evaluated.

Method: We included three patients with genetically confirmed ADCY5 mutations. Data were collected through retrospective review of clinical records and direct or telephone interviews with patients and family members. Each patient underwent comprehensive clinical assessment. Video recordings were used to document clinical status before and after DBS-GPi for objective comparison of motor symptoms.

Results: Three patients with genetically confirmed ADCY5-related dyskinesia were included (two females and one male). Age at symptom onset ranged from 9 months to 3 years, and current age ranged from 13 to 26 years. Developmental delay was observed in two patients, mainly affecting walking and speech milestones. Moderate cognitive delay was present in one patient, while the others had normal cognition.

All patients had hyperkinetic movement disorders, including chorea, dystonia, and myoclonus, with associated gait impairment. Dysarthria was present in all patients. Paroxysmal exacerbations were reported, often triggered by stress or infections, with nocturnal or diurnal worsening in some cases. Additional symptoms included orofacial dyskinesia, tremor, and sialorrhea. Psychiatric symptoms such as anxiety and depression were reported in two patients.

All patients underwent DBS-GPi, with an estimated~ 70% improvement in motor symptoms, based on patient reported outcomes and clinical examinations, supported by video documentation, dyskinesia and paroxysmal episodes were reduced. Quality of life improved with better mobility and daily functioning.

Conclusion: Our findings suggest that DBS-GPi is associated with substantial improvement in hyperkinetic movements and paroxysmal episodes, along with improved function and quality of life.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/clinical-outcomes-of-globus-pallidus-internus-deep-brain-stimulation-in-adcy5-related-dyskinesia-a-case-series-from-a-tertiary-movement-disorders-center/