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Generalized Dystonia in a Patient With Wilson Disease 5 Years After Liver Transplant: A Case Report
Journal article   Open access   Peer reviewed

Generalized Dystonia in a Patient With Wilson Disease 5 Years After Liver Transplant: A Case Report

Elise Edwards, Benjamin Coleman, Matthew Feldman, Jude Hassan Charles and Danielle S Shpiner
Tremor and other hyperkinetic movements (New York, N.Y.), Vol.16(1), p.13
2026
PMID: 41694794

Abstract

Adult Copper-Transporting ATPases - genetics Dystonia - drug therapy Dystonia - etiology Dystonic Disorders - drug therapy Dystonic Disorders - etiology Hepatolenticular Degeneration - complications Hepatolenticular Degeneration - surgery Humans Liver Transplantation - adverse effects Male Postoperative Complications
Liver transplant (LT) is considered curative for Wilson disease (WD) with hepatic failure refractory to medical therapy, particularly when neurologic symptoms are absent. A 29-year-old man with WD developed progressive generalized dystonia five years after LT. He presented with acute-on-chronic neck pain, dysphagia, and dystonic posturing of the neck, trunk, and upper and lower extremities. MRI brain and copper studies were normal. Genetic testing confirmed two heterozygous pathogenic variants. Symptoms improved with botulinum toxin injections. Post-LT neurologic complications may arise from copper dysregulation, immunosuppressant neurotoxicity, or unrelated primary dystonia. Early recognition enables effective symptomatic management.
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https://doi.org/10.5334/tohm.1120View
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