The study of exercise tests in paroxysmal kinesigenic dyskinesia

• Published in: Clinical neurophysiology 2018-11, Vol.129 (11), p.2435-2441
• Main Authors: Zhou, Hai-Yan, Zhan, Fei-Xia, Tian, Wo-Tu, Zhang, Chao, Wang, Yan, Zhu, Ze-Yu, Liu, Xiao-Li, Xu, Yang-Qi, Luan, Xing-Hua, Huang, Xiao-Jun, Chen, Sheng-Di, Cao, Li
• Format: Article
• Language: English
• Subjects: Action Potentials; Adolescent; Adult; Child; Compound muscle action potential; Dystonia - diagnosis; Dystonia - genetics; Dystonia - physiopathology; Exercise Test - methods; Female; Humans; Hypokalaemic periodic paralysis; Long exercise test; Male; Membrane Proteins - genetics; Middle Aged; Muscle, Skeletal - innervation; Muscle, Skeletal - physiopathology; Nerve Tissue Proteins - genetics; Paroxysmal kinesigenic dyskinesia; Proline-rich transmembrane protein 2; Short exercise test; Ulnar Nerve - physiopathology
• ISSN: 1388-2457; 1872-8952
• DOI: 10.1016/j.clinph.2018.09.004

•Paroxysmal kinesigenic dyskinesia (PKD) had distinct patterns in the long exercise test (LET).•The differentiated PKD patients presented with greater amplitude increment than area in the LET.•Abnormal muscle membrane excitability might be involved in the mechanisms responsible for PKD. To unravel if there was muscular ion channel dysfunction in paroxysmal kinesigenic dyskinesia (PKD) patients using the exercises tests (ET). Sixty PKD patients including 28 PRRT2 mutations carriers were enrolled in this study, as well as 19 hypokalaemic periodic paralysis (HypoPP) patients as the positive controls and 45 healthy subjects as the negative controls. ET including long exercise test (LET) and short exercise test (SET) was performed in the corresponding subjects. In the LET, both the overall PKD patients and HypoPP patients had greater CMAP amplitude and area increments during exercise than healthy controls. At most 25% of PKD patients were identified from the normality with greater amplitude increment than the area. On the contrary, 50% of HypoPP patients were differentiated with greater area increment than the amplitude. More percentage of PRRT2− patients than PRRT2+ patients had abnormal average amplitude increment. Unexpectedly, five PKD patients had abnormal maximum CMAP amplitude decrements after exercise in the LET, and one had abnormal maximum immediate amplitude decrement in the SET. Distinct ET manifestations were found in PKD patients compared to normal controls and HypoPP patients. Abnormal muscle membrane excitability might be involved in the mechanisms responsible for PKD.