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Year : 2021  |  Volume : 4  |  Issue : 2  |  Page : 86-88

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

Comprehensive Care Centre for Movement Disorders, Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India

Correspondence Address:
Dr. Syam Krishnan
Department of Neurology, SCTIMST, Trivandrum, Kerala.
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/AOMD.AOMD_44_20

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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.

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