ArticleTremor and other hyperkinetic movements (New York, N.Y.)2025
"Case Report: Klinefelter Syndrome Presenting With Dystonic Tremor: Expanding the Phenotypic Spectrum and Therapeutic Option".
Article in Tremor and other hyperkinetic movements (New York, N.Y.), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Klinefelter syndrome (KS) is associated with tremor and dystonia, but the exact phenomenology and neurophysiology are not well described. Case Report: We present a case of a 51-year-old married male who presented with segmental dystonia affecting the bilateral upper limbs and lower face, accompanied by perioral dyskinesia and a dystonic tremor that was more pronounced on the left side. There was no family history of similar symptoms. His evaluation revealed a history of infertility and the presence of gynecomastia, prompting further endocrine assessment, which demonstrated hypergonadotropic hypogonadism. This finding guided the diagnosis of Klinefelter syndrome (KS), confirmed by a 48,XXY karyotype. He was treated with antitremor medications and Botulinum toxin (BoNT-A), which led to moderate improvement. Discussion: Our case represents the fourth reported case of KS with dystonic tremor in the literature.
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