ADCY5-related dyskinesia with myoclonus-dystonia syndrome: Clues to diagnosis

Abstract

ADCY5-related dyskinesia is a childhood-onset autosomal dominant disorder that is caused by gain-of-function mutations in the ADCY5 gene. The core clinical features include a varying combination of hyperkinetic movement disorders (chorea, athetosis, dystonia, or myoclonus), orofacial dyskinesia, nocturnal exacerbations of dyskinesias while falling asleep, and axial hypotonia. We report two patients diagnosed with ADCY5-related dyskinesia, with myoclonus-dystonia presentation, and elaborate the clinical clues for diagnosis.