Department of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, Moshi, TZ.
Genomics and Bioinformatics Unit, Kilimanjaro Clinical Research Institute Biotechnology Laboratory, Kilimanjaro Christian Medical Centre, Moshi, TZ.
Tremor Other Hyperkinet Mov (N Y). 2020 Jan 10;10. doi: 10.7916/tohm.v0.742. eCollection 2019.
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, 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.
阵发性运动诱发性运动障碍（PKD）是一种运动障碍，对卡马西平治疗有很好的反应。它已在各种人群中描述过，但尚未在非洲人群中描述过。
在一位因卡马西平副作用而就诊的患者中，根据与 PKD 相符的临床病史进行了基因筛查。在该患者中发现了一种常见的 PRRT2 突变，这是非洲首例经基因证实的 PRRT2 相关 PKD。
报告来自一个不寻常位置的罕见运动障碍的基因确认，表明 PRRT2 相关疾病的广泛地理分布。它还说明了这种可治疗的疾病的可识别性，其中最容易获得的诊断工具是神经学病史和检查。
