论文部分内容阅读
遗传性神经变性疾病是各自独立的疾病,存在各种不全型及移行型。1926年Roussy和Levy首先报告一家族病例,主要表现有四肢远端限局性肌萎缩、弓形足、深反射消失和步态不稳。以后又有Friedr-etch失调症合并进行性神经性肌肉萎缩综合征(Ch-arcot-Marie-Tooth病,简称CMT病)的病例报告,故Friedreich失调症与CMT病的联系引起了人们的注意。作者报告1例5岁10个月的女孩,主诉为步态不稳。父母非近亲结婚,家族中无神经肌肉疾病者。母孕期及围产期正常,10个月正常分娩,出生体重2500g。4个月能抬头,7个月会坐,12个月能独自站立,1岁10个月仅能走2～3步,2岁后走路
Hereditary neurodegenerative diseases are their own independent disease, there are various types of incomplete and transitional. In 1926 Roussy and Levy first reported a family case, the main performance of distal extremity limb atrophy, bow foot, deep reflex disappears and gait instability. Later, there are also reports of cases of Friedr-etch disorders combined with progressive neuromuscular syndrome (Ch-arcot-Marie-Tooth disease), so the association between Friedreich’s disorder and CMT is a cause of concern. The authors report a case of 5-year-old girl of 10 months, complained of gait instability. Parents of non-relatives married, family members without neuromuscular disease. Pregnancy and perinatal normal, 10 months of normal delivery, birth weight 2500g. 4 months can rise, 7 months will sit, 12 months can stand alone, 1 year old 10 months can only take 2 to 3 steps, walk after 2 years of age