中英JAMA误诊48年的先

治疗皮肤病的医院哪家好 http://news.39.net/bjzkhbzy/180906/6508755.html

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