A case of mixed geno—Phenotype of generalized dystonia and strumpel disease

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.

肝豆灵片辅助治疗肝豆状核变性步态障碍痰瘀互结证60例临床观察

目的观察肝豆灵片辅助治疗肝豆状核变性(WD)步态障碍痰瘀互结证的临床疗效。方法将120例WD步态障碍痰瘀互结证患者采用随机数字表法分为对照组和治疗组,各60例。对照组在常规低铜饮食和保肝治疗的基础上予以排铜治疗,治疗组在对照组治疗方法的基础上联合肝豆灵片治疗。8 d为1个疗程,4个疗程后比较2组治疗前后的改良Young量表评分、步态障碍测试结果[包括"起立—行走"时间(TUG)和Tinetti量表评分]及24 h尿铜含量。结果治疗后2组改良Young量表评分明显降低,TUG明显缩短,Tinetti量表评分、24 h尿铜含量明显升高,与同组治疗前比较差异均有统计学意义(P<0.05或P<0.01),且治疗组对各项指标的改善作用明显优于对照组,2组比较差异均有统计学意义(P<0.05或P<0.01)。结论肝豆灵片辅助治疗WD步态障碍痰瘀互结证可明显改善患者的步态障碍及临床症状,延缓病情进展,值得临床推广应用。