A58-year-oldmandevelopedprogressivewalkingdifficultyover10years.Hehadnormaldevelopmentandanunremarkablebirthhistory.Atage30,hedevelopedbilateraldroopingeyelidswithdoublevision.Atage48,hedevelopedprogressivegaitunsteadiness,slurredspeech,andswallowingdifficulty.Atage55,heneededtowalkwithacane.Hedidnothaveseizures,hearingloss,ormemoryimpairment.Hedidnothaveanyhistoryofalcoholabuseorexposurestoanticonvulsants.Hismotherhascongenitalcardiacdiseaseanddiabetesmellitus,andhissisterhashadepilepsysincechildhood.Hisdaughterishealthy.
一位58岁男性出现进行性行走困难10年余。发育史正常,出生史无特殊。30岁时,开始出现双侧眼睑下垂,伴复视。48岁时,出现进行性步态不稳、言语不清及吞咽困难。55岁时,他需要借助拐杖走路。无癫痫发作、听力丧失或是记忆损害。既往无酒精滥用或是服用抗癫痫药物史。其母亲有先天性心脏病和糖尿病病史,其妹妹自小有癫痫病史。其女儿体健。
Onexamination,thepatienthadleftexotropiaandbilateralptosiswithoutfatigability.Hispupillaryreflextolightwasnormal.Hehadpartialhorizontalgazepalsyandlackofupwardgaze,whichwasnotover
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