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A case of mixed geno—Phenotype of generalized dystonia and strumpel disease
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作者 vadim belenky 《Case Reports in Clinical Medicine》 2013年第8期437-438,共2页
Background: Strumpel disease and dystonia are inherited disorders with the clinical picture of spastic paraparesis and hyperkinesis respectively. We present a case of a patient born from parents with these diseases wh... Background: Strumpel disease and dystonia are inherited disorders with the clinical picture of spastic paraparesis and hyperkinesis respectively. We present a case of a patient born from parents with these diseases who developed neurologic phenomena uncharacteristic for the classical clinical picture of his parents’ disorders. Case report: Patient V., 12, born from his father with generalized dystonia and mother with Strumpel disease, has flaccid lower paraplegia along with dystonic hyperkinesis in neck and arms. Discussion: The flaccid lower paraplegia could be caused by the anterior horn lesion. This phenomenon is unclear because anterior horn lesions were not diagnosed in the proband’s parents. 展开更多
关键词 DYSTONIA Strumpel DISEASE DYT 1
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