Clinical and electroencephalogram features of dyssynergia cerebellaris myoclonica_Journal of Epilepsy

Authors：

 HANTao , SULei , ZANGKejun , YANGXue , WANGShengjun , ZHAOXiuhe , CAOLili , CHIZhaofu ,  LIUXuewu

Department of Neurology, Qilu Hospital of Shandong University, Jinan 250012, China;

Corresponding author：

LIUXuewu, Email: snlxw1966@163.com

Keywords：

Dyssynergia cerebellaris myoclonica; Myoclonic; Epilepsy; Ataxia; Electroencephalogram

DOI：

10.7507/2096-0247.20160071

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Objective We report two family and one sporadic case with dyssynergia cerebellaris myoclonica, investigate the clinical and neural electrophysiological features. Method sThe proband and sporadic patient was examined by clinical, neuroimaging, video-EEG and synchronous electromyography. Result sThere were 6 patients with dyssynergia cerebellaris myoclonica of the 27 family members in the first family(3 male and 3 female). There were 4 patients with dyssynergia cerebellaris myoclonica of the 20 family members in the second family(2 male and 2 female). All patiens had disproportionately myoclonus, epilepsy and progressive cerebellar ataxia. EEG showed bursts of spike-slow wave, polyspilke-slow wave distributing in the bilateral brain both in ictal and interictal period, sometimes it is especially in central, parietal and frontal area. EEG showed bursts of spike-slow wave, polyspilke-slow wave distributing in the central, parietal and frontal area in interictal period. Pathology of the skin and muscles are normal. Conclusion The diagnosis of dyssynergia cerebellaris myoclonica was mainly based on typical clinical manifestations, brain MRI and EEG changes.Long time video EEG and synchronous EMG is important for the diagnosis. Skin and muscles pathology can be normal.

Citation： HANTao, SULei, ZANGKejun, YANGXue, WANGShengjun, ZHAOXiuhe, CAOLili, CHIZhaofu, LIUXuewu. Clinical and electroencephalogram features of dyssynergia cerebellaris myoclonica. Journal of Epilepsy, 2016, 2(5): 401-405. doi: 10.7507/2096-0247.20160071 Copy

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1. Hunt JR. Dyssynergia cerebellaris myoclonicar primary atrophy of the dentate system:a contribution to the pathology and symptomatology of the cerebellum. Brain, 1921, 44(7):490-538.
2. Marsden CD, Harding AE, Obeso JA. Progressive myoclonic ataxia (the Ramsay Hunt Syndrome). Arch Neurol, 1990, 47(2):1121-1125.
3. Marseill Consensus Group. Classification of progressive myoclonus epilepsies and related disorder. Ann Neurol, 1990, 28(8):113-116.
4. Fahn S, Jankovic J. Principles and practice of movement disorders. Philadelphia:Churchill Livingstone/Elsevier Medicine, 2007:1-556.
5. 王雪, 韩涛, 刘学伍.肌阵挛性小脑协调不能一家系临床及神经影像学特点.中华神经科杂志, 2012, 45(3):179-181.
6. van Egmond ME, Verschuuren-Bemelmans CC, Nibbeling EA. Ramsay hunt syndrome:clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation. Mov Disord, 2014, 29(1):139-143.
7. Sun L, Wu J, Liu C. Report of progressive myoclonus ataxia (PMA) in two Chinese pedigrees. Neurol Res, 2016, 24(6):1-4.
8. Guerrero-Lopez R, Garcia-Ruiz PJ, Giraldez BG. A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure. Mov Disord, 2012, 27(14):1826-1827.

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