Paroxysmal oculogyric dystonia associated with a de novo 3q29 microdeletion

This report describes a young adult female with 3q29 deletion syndrome, autism spectrum disorder, intellectual disability, and anxiety who experienced a sustained, non-medication induced paroxysmal oculogyric dystonia which responded to anticholinergic and antihistaminic medications. This is the first report of paroxysmal oculogyric dystonia associated with this deletion, possibly expanding the phenotypic features of this microdeletion syndrome.
Source: Psychiatric Genetics - Category: Genetics & Stem Cells Tags: Brief Report Source Type: research