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 with a broad spectrum of congenital abnormalities and neuropsychiatric symptoms. Movement disorder is one of the most common neurological manifestation 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 a relapsing-remitting course.
Fields of Study & Subjects
Neurological and metabolic disorders
Genomic variations and chromosomal abnormalities
Neurological disorders and treatments
Publication details
- Journal / source
- Journal of Pediatric Neurology
- Volume
- 23
- Issue
- 4
- Publication date
- 29 January 2026
- Language
- EN