Abstract
Paroxysmal kinesigenic dyskinesia (PKD) is a movement disorder characterized by frequent,
brief episodes of choreiform or dystonic movements, often triggered by voluntary movement
or a startle sensation. Here, we report a case of PKD associated with a novel variant
in PRRT2 gene. A 19-year-old male with no medical history presented with hyperkinetic movement
disorder symptoms consistent with PKD. Clinical evaluation, laboratory studies, and
genetic testing were performed to confirm the diagnosis. Treatment with carbamazepine
was initiated, and the patient's response was monitored over a 9-month period. The
patient exhibited classic clinical criteria for PKD, including brief episode duration,
an identified kinesigenic trigger, and responsiveness to pharmacological treatment.
Genetic testing revealed a pathogenic variant in PRRT2 gene not previously reported in association with PKD. Treatment with carbamazepine
led to complete resolution of symptoms, with sustained improvement observed during
follow-up. This case highlights the importance of considering PKD in the differential
diagnosis of hyperkinetic movement disorders and emphasizes the role of genetic testing
in confirming the diagnosis. Furthermore, it underscores the efficacy of carbamazepine
in managing PKD symptoms associated with PRRT2 gene. Further research is warranted to elucidate the underlying pathophysiological
mechanisms and optimize treatment strategies for PKD.
Keywords
dyskinesias - prrt2 protein - genetics - case reports
