| CASE REPORTS |
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| Year : 2021 | Volume
: 4
| Issue : 2 | Page : 86-88 |
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ADCY5-related dyskinesia with myoclonus-dystonia syndrome: Clues to diagnosis
Udit Saraf, Mitesh Chandarana, KP Divya, Syam Krishnan
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.
India
 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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