A case of mixed geno—Phenotype of generalized dystonia and strumpel disease
A case of mixed geno—Phenotype of generalized dystonia and strumpel disease作者机构：Yavorskiy Homeopathic Clinic Saint Petersburg Russia
出 版 物：《Case Reports in Clinical Medicine》 (临床医学病理报告（英文）)
年 卷 期：2013年第2卷第8期
页 面：437-438页
学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学]
主 题：Dystonia Strumpel Disease DYT 1
摘 要：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.
维普期刊数据库