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DOI: 10.1055/s-0044-1788635
Acute Onset, Relapsing–Remitting Choreiform Movement Disorder in A Girl with 22q11.2 Deletion Syndrome
Abstract
22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, presenting after a broad spectrum of congenital abnormalities and neuropsychiatric symptoms. Movement disorder is one of the most common neurological manifestations of the syndrome. The literature reports that early Parkinson's disease and dystonia, in particular, are associated with the syndrome. We here describe the first known case of choreiform movement disorder in a girl suffering from 22q11.2DS, responsive to tetrabenazine after relapsing–remitting course.
Publikationsverlauf
Eingereicht: 06. April 2024
Angenommen: 29. Juni 2024
Artikel online veröffentlicht:
31. Juli 2024
© 2024. Thieme. All rights reserved.
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