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[Paroxysmal kinesigenic dyskinesia: 2 case reports].

Yan Xu1, Xian-zeng Liu1, Xu-guang Gao1

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Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences
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Summary

Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disorder triggered by movement. Carbamazepine effectively treats PKD symptoms, even when other tests are normal.

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Area of Science:

  • Neurology
  • Genetics

Background:

  • Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disorder characterized by sudden, involuntary movements.
  • It is more prevalent in males and can be idiopathic or secondary to other causes.
  • The exact pathophysiology remains unclear, but it is suspected to involve ion channel dysfunction.

Observation:

  • Two patients presented with abnormal involuntary attacks suggestive of PKD.
  • Comprehensive evaluations, including physical exams, metabolic and endocrine studies, video EEG, and brain MRI, yielded normal results.
  • Despite normal diagnostic findings, the patients' symptoms responded exceptionally well to carbamazepine treatment.

Findings:

  • Genetic studies have linked PKD to chromosome 16, with the proline-rich transmembrane protein 2 (PRRT2) gene identified as a causative factor.
  • Carbamazepine, an antiepileptic drug, has demonstrated significant efficacy in managing PKD symptoms in a substantial number of patients.
  • Distinguishing PKD from epilepsy can be challenging, highlighting the importance of clinical presentation and treatment response.

Implications:

  • The identification of PRRT2 as a causative gene offers insights into the molecular mechanisms of PKD.
  • Carbamazepine's effectiveness suggests a potential therapeutic target for ion channel modulation in PKD.
  • This case underscores the importance of considering PKD in patients with unexplained involuntary movements, even with normal neurological workups.