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Paroxysmal Kinesigenic Dyskinesia
Martin Paucar1,2, Helena Malmgren3,4, Per Svenningsson1,2
1Department of Neurology, Karolinska University Hospital Huddinge, Stockholm, Sweden.
Tremor and Other Hyperkinetic Movements (New York, N.Y.)
|December 26, 2017
Summary
Paroxysmal kinesigenic dyskinesia (PKD), a rare genetic disorder, presents unique symptoms. This condition, linked to PRRT2 gene mutations, effectively responds to antiepileptic drug treatments.
Area of Science:
- Genetics
- Neurology
Background:
- Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disorder.
- It is characterized by heterozygous mutations in the proline-rich transmembrane protein 2 (PRRT2) gene.
Observation:
- This article details the specific presentation of PKD in a male patient.
- The patient was initially misdiagnosed with Tourette's syndrome, highlighting diagnostic challenges.
Findings:
- PKD exhibits a distinct clinical phenomenology.
- The condition demonstrates significant responsiveness to specific antiepileptic drugs, irrespective of the precise phenotype.
Implications:
- Accurate diagnosis of PKD is crucial for effective treatment.
- Antiepileptic drugs offer a viable therapeutic strategy for managing PKD symptoms.
- Further research into PRRT2 gene function can elucidate PKD pathogenesis.
