CAJ | 학술논문

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。
목적：분석긍니적병（Kennedy disease, KD）적림상특점，비교KD여기위축측색경화（amyotrophic lateral sclerosis, ALS）적신경전생리개변。방법수집KD환자9례、ALS환자13례급정상대조26례，분석KD환자적림상표현，병대3조수시자적운동화감각신경전도급상규기전도결과진행통계분석。결과（1）KD조조중기설기위축、면기속전발생솔분별위100%、88.9%；（2）KD조비장신경감각신경동작전위（sensory nerve action potential, SNAP）미인출솔56.3%，기파폭（7.9.±3.4）μV현저저우ALS조（20.0±5.2）μV급정상대조조（26.1±16.8）μV（P<0.05）。결론대우림상표현유사운동신경원병적남성환자，약조중기출현설기위축、면기속전，전생리검사유조우KD여ALS적감별진단，비장신경SNAP파폭현저강저제시환자수행KD기인검사。
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±3.4μV) than in ALS patients (20.0±5.2μV) 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.