A64-year-oldmanwasreferredwitha5-monthhistoryofprogressivemuscleweakness.Hefirstnotedastoopedpostureandgaitdifficulties,followedbydifficultyclimbinganddescendingstairsandliftingdishesupontohighshelves.Theprogressiveseverityofhisweaknessledhimtorequireawheelchairbythetimeofhispresentation.Hewasunabletositunaided,presumablybecauseofaxialweakness.Inaddition,hehadrecentlystartedtoexperiencebulbarsymptoms,includingdysphagiaandvoicechanges,alongwithshortnessofbreathonexertionorwhenlyingflat.Hedeniedvisualsymptoms,ptosis,andfacialweakness.Therewasnodiurnalfluctuationofsymptoms.Hehadnosensorysymptomsorsphincterdisturbance.Therewasnofamilyhistoryofmuscledisease.However,hisfamilyhistorywaspositiveforachildwithchronicinflammatorydemyelinatingpolyneuropathy,startingatage16,withgoodresponsetoperiodicIVimmunoglobulin(IVIg),andanotherchildwithacuteinflammatorydemyelinatingpolyneuropathy,whorecoveredfully.
64岁男性，进行性肌肉无力5个月。患者最初弯腰姿势和步态困难，随后出现上下楼梯和举餐具到高架上困难。患者无力进展严重使其就诊时需要轮椅。推测由于轴肌无力（注:轴肌：头及躯干肌），患者不经协助无法坐下。另外，他最近开始出现球部症状，包括吞咽困难和声音改变，伴有劳力或平卧时气短。患者否认视觉症状、眼睑下垂和面肌无力。症状没有日间波动。没有感觉症状和括约肌障碍。家族中没有肌病病史。但是家族中有个孩子患有慢性炎症性脱髓鞘性多发性神经病，16岁起病，对周期性静脉注射免疫球蛋白（IVIg）有良好反应，另一个孩子曾患有急性炎症性脱髓鞘性多发性神经病，并完全恢复。
Onexamination,therewerenofasciculationsnoted.Therewasborderlineweaknessoftheleftorbicularisoculiandfrontalismuscles.Cranialnerveexaminationwasotherwisenormal,includingnormalspeech,andnormaltongueexamination.Therewaswastingoftherightbrachioradialis;bulkwasotherwisenormal.Tonewasnormal.Strengthinall4extremitieswasnormalonmanualtesting(MedicalResearchCouncil[MRC]grade5).Hehadsomedifficultygettingupfromsittingandwasleaningforwardwhendoingso.Plantarresponsesweredowngoing.Deeptendonreflexes,sensoryexamination,andcoordinationwerenormal.Hestoodwithaseverelumbarlordosisandprotuberantabdomen.Hewasabletowalkonhisheelsandtoes.
体格检查：未发现肌束震颤。可疑左侧眼轮匝肌和额肌无力。但是颅神经检查是正常的，包括语言和舌体检查都是正常的。右侧肱桡肌消瘦，但是容积正常。肌张力是正常的。徒手肌力检查四肢肌力是正常的（医学研究委员会[MRC]5级）。从坐位站立时困难并向前倾倒。跖反射是正常屈趾。深反射、感觉和共济检查都是正常的。站立时有严重的腰椎前凸和腹部隆凸。能够用脚趾和脚后跟行走。
Questionsforconsideration:
1.Whatisyourdifferentialdiagnosisatthispoint?
2.Whattestingwouldbehelpfultonarrowthedifferentialdiagnosis?
问题思考：
1.到目前为止，你的鉴别诊断有哪些？
2.哪些检查对缩小鉴别诊断范围有帮助？
SECTION2第二部分Thispatienthasa5-monthhistoryofweaknesspredominantlyaffectingtheparaspinalmuscles,withsomeinvolvementofproximallimbandbulbarmuscles.Despitehisfamilyhistoryofinflammatorydemyelinatingpolyneuropathy,itwasnotthoughtthathispresentationfitthatcategoryofdiseases—mainlybecauseofthedistributionofweakness,theabsenceofsensory治白癜风石家庄哪家医院好治白癜风石家庄哪家医院好
