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Tsoma, E.* ; Studeniak, T.* ; Jech, R.* ; Zech, M. ; Havrankova, P.* ; Růžička, E.* ; Kunc, L.* ; Chomolyak, Y.*

Mixed movement disorder caused by ADCY5 pathogenic variant successfully treated with caffeine: A case from Ukraine.

Case Rep. Neurol. Med. 2026:4661314 (2026)
Verlagsversion Forschungsdaten DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
BACKGROUND: Mixed movement disorder due to pathogenic variants in the ADCY5 gene (MxMD-ADCY5) is a rare condition characterized predominantly by paroxysmal involuntary choreiform movements involving the limbs, face, and neck, often accompanied by dystonia and myoclonus. Speech disturbances, delayed motor development, cognitive impairment, axial hypotonia, and episodic exacerbations of dyskinesia are also common features. Currently, treatment strategies remain limited; however, several studies indicate a beneficial effect of caffeine in the management of dyskinesia. OBJECTIVE: This clinical report aims to present a case of MxMD-ADCY5 showing a high therapeutic response to caffeine. To our knowledge, this is the first reported Ukrainian patient with this condition demonstrating dramatic improvement in paroxysmal dyskinesia after treatment with high-dose caffeine. CONCLUSIONS: In our clinical observation, administration of caffeine at a total daily dose of 600 mg resulted in significant clinical improvement in an adult patient with MxMD-ADCY5 over a follow-up period of at least 6 months. No adverse events or side effects were reported.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Mxmd-adcy5 ; Caffeine ; Paroxysmal Dyskinesia; Dyskinesia
ISSN (print) / ISBN 2090-6668
e-ISSN 2090-6676
Zeitschrift Case Reports in Neurological Medicine
Quellenangaben Band: 2026, Heft: 1, Seiten: , Artikelnummer: 4661314 Supplement: ,
Verlag Wiley
Verlagsort 111 River St, Hoboken 07030-5774, Nj Usa
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
Förderungen Technical University of Munich-Institute for Advanced Study
Lander
Free State of Bavaria under the Excellence Strategy of the Federal Government
Federal Ministry of Education and Research (BMBF)
German Federal Ministry of Education and Research (BMBF, Bonn, Germany)
EJP RD (EJP RD Joint Transnational Call 2022)
Else Kroener-Fresenius-Stiftung
Charles University: Cooperation Program in Neuroscience
Agency for Health Research of the Czech Republic