突变携带者的阵发性运动障碍
Paroxysmal Dyskinesias in a Mutation Carrier.
作者信息
Marano Massimo, Motolese Francesco, Consoli Federica, De Luca Alessandro, Di Lazzaro Vincenzo
机构信息
Neurology, Neurophysiology and Neurobiology Unit, Department of medicine, Campus Bio-Medico of Rome University, Rome, IT.
Fondazione IRCCS Casa Sollievo della Sofferenza, Laboratorio di Genetica Molecolare, San Giovanni Rotondo (FG), IT.
出版信息
Tremor Other Hyperkinet Mov (N Y). 2018 Dec 3;8:616. doi: 10.7916/D8S488X0. eCollection 2018.
BACKGROUND
Paroxysmal movement disorders are rare and heterogeneous genetic conditions characterized by the recurrence of transient involuntary movements.
PHENOMENOLOGY SHOWN
The phenomenology of a paroxysmal kinesigenic dyskinesia in a young professional athlete.
EDUCATIONAL VALUE
Providing basic clinical and genetic elements for the early recognition and diagnosis of a rare movement disorder.
背景
发作性运动障碍是罕见的异质性遗传疾病，其特征为短暂性不自主运动反复发作。
呈现的现象学
一名年轻职业运动员的发作性运动诱发性运动障碍的现象学。
教育价值
为一种罕见运动障碍的早期识别和诊断提供基本的临床和遗传学要素。
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