中英075JAMA误诊48年的先天性肌无

图沙丁胺醇治疗前后的临床特征。A,脊柱过度前凸和轴性肌无力。B,治疗1年后,随着肌肉容积和体重的增加,脊柱前凸明显改善。

A48-year-oldmanattendedtheoutpatientclinicformuscularweaknessandrestrictedabilitytowalk,whichhadslowlyincreasedsinceinfancy.Medicalhistoryrevealedmuscleweaknessnoticeablesincebirth,butnormalcognitivedevelopment.Hefirstwalkedatage18months,butalwayshadawaddlinggaitandhyperlordosis.Thepatientwasexaminedat3neuromuscularcenters.Electromyography(EMG),creatinephosphokinaselevels,muscletomodensitometry,and3musclebiopsieswerenormal.Resultsforacetylcholinesteraseantibodieswerenegative.Atage48years,thepatienthadincreasingaxialandproximalweakness,hyperlordosis(Figure,A),anddifficultiesrisingfromthefloor.Hewasonlyabletowalkmina6-minutewalkingtest.Peripheralfacialweaknessandbilateraleyelidptosiswereprominent.Clinicalhistoryalsoincludedasthmawithseveralepisodesofde







































北京中科医院是怎么样
北京中科医院是骗子



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