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说明:
关键词: 肌阵挛,癫痫,小脑,共济失调
肌阵挛性小脑协调不能(dyssynergia cerebellaris myoclonica)是以肌阵挛、癫痫、小脑性共济失调为特征的临床综合征。又称Ramsay Hunt综合征(RHS)[1]。
一、定义与命名
1921年Hunt在题为“肌阵挛性小脑协调不能——原发性齿状核萎缩”的文章中描述4例散发病例和1对孪生兄弟。这对孪生兄弟于儿童早期的表现类似Friedreich共济失调,在30岁左右出现肌阵挛和癫痫,其中1例36岁死亡,尸检显示脊髓小脑束和后索变性,齿状核萎缩,小脑上脚变细。因此,Hunt认为肌阵挛和小脑性共济失调有特殊的关系,并推断小脑齿状核系统的原发性萎缩是肌阵挛和小脑性共济失调的病理基础,随后,以Ramsay Hunt命名的许多相似病例也相继被报道。然而,关于RHS是作为一个疾病的实体,还是一个综合征,一直是近期争论的焦点[2-6],临床上人们很难将其与进行性肌阵挛性癫痫(progressive myoclonic epilepsy, PME)中的一种类型——Unverrich-Lundborg病相区分,它们是否属于同一种病尚不清楚。1990年,Marseille协作小组将RHS分成两大类,即PME和进行性肌阵挛性共济失调(progressive myoclonic ataxia, PMA)[5,6]。PME是指肌阵挛伴有癫痫发作和进行性神经功能衰退,如轻度共济失调和痴呆。PMA是指肌阵挛、进行性小脑性共济失调,癫痫发作并不频繁[6]。
目录:
一、定义与命名
二、病理及病理生理
三、临床特征
四、临床表现类似RHS的疾病
五、电生理改变
六、临床诊断
七、治疗及预后[12]
八、问题及展望
参考文献:
1 Hunt JR. Dyssynergia cerebellaris myoclonica-primary atrophy of the dentate system : a contribution to the pathology and symptomatology of the cerebellum. Brain, 1921, 44: 490-538.
2 Shakir RA,Khan RA, al-Zuhair AG. Progressive myoclonic ataxia without ragged red fibres:Unverricht-Lundborg disease vs Ramsay Hunt syndrome. Acta Neurol Scand, 1992,86:470-473.
3 Berkovic SF, Andermann F. Ramsay Hunt syndrome: to bury or to praise. J Neurol Neurosurg Psychiatry, 1990, 53: 89-90.
4 Tassinari CA,Michelucci R,Genton P,et al. Dyssynergia cerebellaris myoclonica (Ramsay Hunt syndrome): a condition unrelated to mitochondrial encephalomyopathies. J Neurol Neurosurg Psychiatry, 1989,52:262-265.
5 Marsden CD,Harding AE,Obeso JA, et al. Progressive myoclonic ataxia (the Ramsay Hunt syndrome). Arch Neurol,1990,47:1121-1125.
6 Classification of progressive myoclonus epilepsies and related disorder. Ann Neurol, 1990, 28:113-116.
7 Kobayashi K, Morikawa K, Fukutani Y,et al. Ramsay Hunt syndrome: progressive mental deterioration in association with unusual cerebral white matter change. Clin Neuropathol,1994,13:88-96.
8 Kunesch E,Becker WJ, Freund HJ. Myoclonus and sensorimotor integration in a patient with Ramsay Hunt syndrome. Electroencephalogr Clin Neurophysiol, 1991, 81:337-343.
9 Berkovic SF,Andermann F,Carpenter S,et al. Progressive myoclonus epilepsies: specific causes and diagnosis. N Engl J Med, 1986,315:296-305.
10 Oldfors A, Holme E, Tulinius M, et al. Tissue distribution and disease manifestations of the tRNA (Lys)A-G 8344 mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres. Acta Neuropathol(Berl), 1995,90:328-333.
11 Tassinari CA, Coccagna G, Mantovani M, et al. Polygraphic study of dyssynergia cerebellaris myoclonica (Ramsay Hunt syndrome) and the intention myoclonus (Lance-Adams syndrome) during sleep. Eur Neurol, 1973, 9: 105-120.
12 Obeso JA,Artieda J,Rothwell JC, et al. The treatment of severe action myoclonus. Brain, 1989, 112: 765-777.