摘要
致死性家族性失眠症是一种罕见的常染色体显性遗传的朊蛋白病,本文报道1 例确诊的致死性家族性失眠症患者的临床症状、相关检查、诊断、治疗及预后情况,并对其不自主运动、喉部喘鸣与体位改变显著相关的独特临床表现进行描述,以期为该病今后的临床诊治和研究提供参考.
Abstract
Fatal familial insomnia,an autosomal dominant prion disease,is rare.We reported the clin-ical symptoms,examination results,diagnosis,treatment,and prognosis of a patient who was diagnosed with fatal familial insomnia.Furthermore,we described the unique clinical manifestations that involuntary movements and laryngeal stridor were significantly correlated with postural changes,aiming to provide reference for the clini-cal diagnosis,treatment,and research of the disease in the future.
维普
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