摘要
目的探讨腓骨肌萎缩症(CMT)2L型的临床特点。方法回顾性分析1家系中12名成员的临床表现及基因突变情况。结果本家系中患者的主要临床表现为双下肢远端进行性加重的肌肉萎缩和肌无力,部分伴上肢远端肌肉萎缩,感觉异常,踝反射、膝腱反射减弱或消失,爪形手、弓形足,视力、听力障碍。家系调查显示常染色体显性遗传,小分子热休克蛋白22基因点突变(422A-C)。结论该家系为CMT2L型,临床表现结合基因测序可确诊CMT亚型,且有助于发现新的突变位点。
Objective To investigate the clinical characteristics of Charcot-Marie-Tooth disease type 2L.Methods The clinical manifestations and gene mutation of twelve members from a Charcot-Marie-Tooth disease family were retrospectively analyzed. Results The main clinical manifestation of patients in the family were progressive muscle weakness and atrophy at distal of both lower limbs,and some with upper limbs,paresthesia,weaken or disappearance of ankle and knee reflex,claw hand and pes cavus,visual and hearing disorders. Family survey showed autosomal dominant inheritance and missense mutations in the small heat shock protein HSPB8（ 422AC）. Conclusions The family is confirmed CMT2 L. Combinetion of clinical features and gene-sequencing will be useful to the discovery of new mutation site and subtype.
出处
《临床神经病学杂志》
CAS
北大核心
2016年第5期336-339,共4页
Journal of Clinical Neurology
