An18-year-oldHmongmansoughtmedicalcarebecauseofworseningperformanceonmilitarytrainingexercises.Hehadaprevioussyncopalepisodewithpromptrecovery.Hismedicalanddevelopmentalhistorywereotherwiseunremarkable.Achestradiographrevealedcardiomegalyand,afterfurthercardiactests,hewasdiagnosedwithpostinfectiousoridiopathiccardiomyopathy.Hiscardiacfunctiondeterioratedandhearttransplantationwaspursued.Duringpreoperativeevaluation,hisserumcreatinekinase(CK)wasnotedtobepersistentlyelevatedinthe4,s,promptingfurtherinvestigation,butsincehewasnotweakorotherwisesymptomatic,definitivediagnosisandtreatmentwerenotpursued.When19yearsold,heunderwentorthotropichearttransplantation.Inthefollowingyears,hehadmultiplestentsplacedforcoronaryarterydiseaseanddevelopedtype1diabetesmellitus,butheworkedasaninformationspecialistandcaredforhimself.
18岁，男性，赫蒙族人，因*事训练越来越差的表现而寻求治疗。既往有迅速恢复的发作性晕厥史，无其他特殊病史。胸部X线片显示心脏扩大，通过对心脏的进一步检查，诊断为感染性或特发性心肌病。患者心脏功能进一步恶化，需进行心脏移植。术前评价，血清CK值持续升高至4U/L以上，需要进一步检查。但患者无乏力表现或者其他症状，也就没有明确的诊断和治疗措施。19岁时，他进行了异型心脏移植，接下来的几年里，他放了多个心脏冠脉支架并发展为1型糖尿病，但他依然作为信息专员工作着，并且自己照顾自己。
Inthepatient’searly30s,familymembersnoticedalimp,andheperceivedaninabilitytowalkonthetoesoftheleftfoot.Healsoexperiencedburningofhislegsaftermoderateactivity,suchasclimbing2flightsofstairs.Thestatinhetookforhyperlipidemiawasdiscontinued.Thesesymptoms,alongwithpersistenthyperCKemia,promptedaneurologyconsultation.Hedeniedmuscleweakness,cramps,episodesofparalysis,orurinediscoloration.Therewasnofamilyhistoryofmuscledisorder,weakness,cardiomyopathy,orsuddendeath.Examinationdemonstratedmildweakness(4/5onMedicalResearchCouncilscale)ofneckflexion,elbowflexion,andshoulderexternalrotation,moreprominentontheleft.Hecouldnotstandonhistoes.Hehadbilateral,asymmetricatrophyoftheposteriorcalves,leftmorethanright.Tonewasnormal,andtherewasnopercussionorgripmyotonia.Reflexeswere2+andsymmetricintriceps,brachioradialis,andpatella,1+attherightbiceps,absentattheleftbiceps,andabsentatbothankles.Hehadnormalmentalstatus,cranialnerves,sensoryexamination,andcoordination.EMGrevealedwidespreadabnormalspontaneousactivityinvolvingupperandlowerlimbs,aswellasthoracicandlumbarparaspinalmuscleswith