Paroxysmal Kinesigenic Dyskinesia: First Molecularly Confirmed Case from Africa.

ABSTRACT: Paroxysmal kinesigenic dyskinesia (PKD) is a movement disorder, with an excellent response to carbamazepine treatment. It has been described in various populations, but not yet in an African population. In a patient who reported to clinic with side effects of carbamazepine, PRRT2 gene screening was performed based on a clinical history compatible with PKD. A common PRRT2 mutation was identified in this patient, hereby the first genetically confirmed PRRT2-associated PKD in Africa. Reporting genetic confirmation of an unusual movement disorder from an equally unusual location shows the wide geographical distribution of PRRT2-associated disease. It also illustrates recognizability of this treatable disorder where the easiest accessible diagnostic tool is neurological history and examination.

SUBMITTER: Dekker MCJ 

PROVIDER: S-EPMC6982423 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature