腓骨肌萎缩症一家系报告并文献复习

目的探讨腓骨肌萎缩症1A型的临床特点。方法回顾分析腓骨肌萎缩症1A型一家系的临床表现、神经电生理及基因检测结果。结果先证者为12岁男孩,因双下肢乏力就诊。患儿四肢肌张力稍减低,四肢近端肌力Ⅴ级,远端肌力Ⅳ级,双下肢膝关节以下及双上肢远端肌肉对称性萎缩,四肢末端感觉稍减退,膝反射、踝反射消失,双足高弓足,病理征阴性,共济运动未见异常。肌电图示神经传导速度减慢。基因检测发现患儿PMP22基因外显子1-5杂合重复。患儿母亲携带同样的基因变异,肌电图示神经传导速度减慢。追溯其家系四代16位成员,共6例患者,均正常存活且有高弓足、小腿肌萎缩和肢体无力表现,1例需依靠轮椅行走,1例行基因验证有同样变异。患儿行康复治疗后随访,症状改善不明显。结论腓骨肌萎缩症1A型是常染色体显性遗传病,临床表现为肢体远端为主的进行性肌无力、肌肉萎缩、腱反射减弱或消失、足部畸形、感觉功能减退;肌电图神经传导速度慢,基因检测有助诊断。

A case report of Charcot-Marie-Tooth disease in pedigree and literature review

Objective To explore the clinical features and diagnostic methods of Charcot-Marie-Tooth disease type 1A(CMT1 A).Methods The clinical manifestations,neuroelectrophysiology and genetic test results of a family with CMT 1A were retrospectively analyzed.Results A 12-year-old boy was admitted to hospital because of lower limbs weakness.Limbs hypotonia,level V of the proximal limbs myodynamia,levelⅣof the distal muscle,symmetry atrophy of the muscle under the knee joint and the double distal upper limb muscles,symmetric limbs hypoesthesia,knee jerk and ankle reflex disappears,high arches feet.EMG examination indicated that the nerve conduction velocity slowed down.Gene detection results:Heterozygous duplication of exon 1-5 of PMP22 gene was detected.All the patients showed high arch foot,leg muscle atrophy and limb weakness.EMG of the mother indicated decreased nerve conduction velocity,and gene test indicated heterogenous duplication of the EXon 1-5 of PMP22 gene.Conclusion CMT1A is related to the variation of PMP22 gene,which is autosomal dominant.The most common mutation is 1.4 MB-1.5 MB repeated mutation.Clinical manifestations include progressive limb weakness,muscle atrophy,diminished or absent tendon reflexes,foot deformities,and paresthesia.Electromyography with MNCV less than 38 m/s and genetic test with PMP22 duplication can be diagnostic.Treatments including PXT 3003 and phosphatidyl choline and phosphatidyl ethanolamine diet has being in clinical trials.