肯尼迪病患者的临床与肌电图特点（附三例报告）.pdfVIP

Chin J N euroim m unol N eurol V ol N o KD KD U L SNA P SCV CAG KD KD R A The clinical and electromyogram features of Kennedy disease a report of three cases L I J ing L I Chuanf en H U H uaiq iang L I U Fuhong S U J ing GA O L ig uo CA O B ingz hen Dep artment of N eurology J inan M ilitary Gene ral H osp ital J inan Shandong China Corresponding author LI Jing Email love ing tong com j ABSTRACT Objective T o summarize the clinical and electromyog ram f eatures of Kennedy disease KD to f urther understand KD Methods We analyzed the clinical manif estation electromyogram features and laboratory examinations of three KD patients w hose diagnosis w ere defined by gene analy sis Results All of the cases w ere characterized by low er motor neuron damage predominantly in the proximal and bulbar muscle accompanied by upper limb tremor and high levels of creatine kinase U L U L U L respectively T here w ere obvious perioral muscle tremors in tw o cases EM G detected a w idespread neuronal damage decreased amplitude of SNA P and SCV in all three cases T hree CAG repeat numbers in A R gene w ere all above respectively Conclusions KD is characterized by slow progress of bulbar and limb muscle w eakness and atrophy associated w ith endocrine or metabolic disturbance KD show ed neurogenic damage accompanied by sensory neuropathy on electromyog raphy Key words Kennedy disease clinical features electromyogram Kennedy disease KD X X Xq