Paroxysmal Kinesigenic Dyskinesia

Tremor Other Hyperkinet Mov (N Y). 2017 Dec 12:7:529. doi: 10.7916/D8R79N2F. eCollection 2017.

Abstract

Background: Paroxysmal kinesigenic dyskinesia (PKD) is a rare condition associated with heterozygous mutations in the proline-rich transmembrane protein 2 (PRRT2) gene.

Phenomenology shown: In this article we illustrate the phenomenology of PKD in a male previously misdiagnosed with Tourette's syndrome.

Educational value: Regardless of the underlying phenotype, PKD is highly responsive to some antiepileptic drugs.

Keywords: PRRT2; Paroxysmal kinesigenic dyskinesia; carbamazepine.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Video-Audio Media

MeSH terms

  • Adult
  • Anticonvulsants / therapeutic use
  • Carbamazepine / therapeutic use
  • Diagnosis, Differential
  • Diagnostic Errors
  • Dystonia / diagnosis*
  • Dystonia / drug therapy
  • Dystonia / genetics
  • Dystonia / physiopathology
  • Humans
  • Male
  • Membrane Proteins / genetics
  • Nerve Tissue Proteins / genetics
  • Phenotype
  • Tourette Syndrome / diagnosis

Substances

  • Anticonvulsants
  • Membrane Proteins
  • Nerve Tissue Proteins
  • PRRT2 protein, human
  • Carbamazepine

Supplementary concepts

  • Familial paroxysmal dystonia