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Highlighting the value of polymyography in childhood onset movement disorders.

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Bilateral Globus Pallidus Deep Brain Stimulation Improves Motor Function in ADCY5-Related Disorder.

Moritz Thiel1, Katerina Bernardi2, Enrique Gonzalez Saez-Diez2,3

  • 1Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, Cologne, Germany.

Movement Disorders : Official Journal of the Movement Disorder Society
|January 24, 2026
PubMed
Summary

Deep brain stimulation (DBS) effectively treats ADCY5-related movement disorders in children. This safe therapy improves motor function and quality of life, supporting early intervention.

Keywords:
childhood‐onset movement disordersdeep brain stimulationdyskinesiadystoniagenotype–phenotype correlationhyperkinetic movement disordersneurogeneticsprecision medicine

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Area of Science:

  • Neurology
  • Genetics
  • Neurosurgery

Background:

  • ADCY5-related disorder causes severe hyperkinetic movement disorders.
  • The efficacy of deep brain stimulation (DBS) for this condition is not well-established.

Purpose of the Study:

  • To evaluate the therapeutic impact of bilateral globus pallidus internus (GPi) DBS in children with genetically confirmed ADCY5-related movement disorders.

Main Methods:

  • A multicenter cohort study of 8 pediatric patients with ADCY5-related movement disorders treated with GPi DBS.
  • Assessment of motor function using the Burke-Fahn-Marsden Dystonia Rating Scale.

Main Results:

  • All patients showed significant improvement in hyperkinesia and paroxysmal exacerbations.
  • Mean motor scores improved substantially (50.7 to 22.7), with functional gains in motor milestones, speech, and swallowing.
  • No perioperative complications were reported.

Conclusions:

  • Bilateral GPi-DBS is a safe and effective treatment for ADCY5-related movement disorders.
  • The therapy provides sustained motor and functional improvements, reducing disease burden.
  • Earlier consideration of DBS may improve long-term outcomes.