肯尼迪病与肌萎缩侧索硬化的临床及电生理特点比较

Comparison of clinical and physiological characteristics between Kennedy disease and amyotrophic lateral sclerosis

目的分析肯尼迪病(Kennedy disease,KD)的临床特点,比较KD与肌萎缩侧索硬化(amyotrophic lateral sclerosis,ALS)的神经电生理改变。方法收集KD患者9例、ALS患者13例及正常对照26例,分析KD患者的临床表现,并对3组受试者的运动和感觉神经传导及常规肌电图结果进行统计分析。结果(1)KD组早中期舌肌萎缩、面肌束颤发生率分别为100%、88.9%;(2)KD组腓肠神经感觉神经动作电位(sensory nerve action potential,SNAP)未引出率56.3%,其波幅(7.9.±3.4)μV显著低于ALS组(20.0±5.2)μV及正常对照组(26.1±16.8)μV(P<0.05)。结论对于临床表现类似运动神经元病的男性患者,若早中期出现舌肌萎缩、面肌束颤,电生理检查有助于KD与ALS的鉴别诊断,腓肠神经SNAP波幅显著降低提示患者需行KD基因检查。

Objective To study the clinical presentations of Kennedy disease （KD） and compare the neurophysiological features between KD and amyotrophic lateral sclerosis（ALS）. Methods Nine patients with KD, 13 patients with ALS and 26 normal control subjects were recruited. The clinical presentations of KD were analyzed, and the results of nerve conduction studies and electromyography were compared among the 3 groups. Results The rates of tongue atrophy and facial fasciculation were 100% and 88.9%, respectively, in the early course and mid-course of KD, sensory damages might be perceived. 2）The sural nerve sensory nerve action potential （SNAP） was not elicited in 56.3% of the patients with KD, and sural nerve SNAP amplitudes were significantly lower in KD （7.9±3.4 μV） than in ALS patients （20.0±5.2 μV） and normal control subjects （26.1± 16.8 μV） （P〈0.05）. Conclusion The onset of clinical presentations mimicking motor neuron disease, appearance of tongue atrophy and facial fasciculation in the early and mid-course, and presence of sensory impairment with a decreased sural nerve SNAP amplitude may suggest the diagnosis of KD and should prompt a genetic test for KD.