dystrophy肌营养不良症课件

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1、Whatdiseasedidthechildsufferfrom?MuscularDystrophies肌营养不良症DepartmentofNeurologyXuanwuHospitalYouShouldKnow:1.theinheritancepattern,pathogenesis,andclinicalfeaturesofDuchenne/Beckermusculardystrophy2.howtodiagnoseapatientwithDuchennemusculardystrophy3.thec

2、ategoryofmusculardystrophiesDefinitionofMuscularDystrophiesThemusculardystrophiesareprogressivehereditarydegenerativediseasesofskeletalmuscles.(遗传性骨骼肌变性疾病）Manyarenowknowntobesecondarytoabnormalitiestooneofthestructuralmuscleproteins.（肌肉蛋白的异常）ClinicalFeatu

3、resofMDsMuscularweaknessandatrophyIntactsensibilityHeredofamilialincidenceMuscularDystrophies:CategoryofMolecularGeneticsClassificationofMDsPseudohypertrophicmusculardystrophiesDystrophin-deficientdystrophy---Dystrophinopathies（DuchenneandBecker)Limbgirdl

4、emusculardystrophy(LGMD)Facioscapulohumeralmusculardystrophy(FSHD)Oculopharyngealmusculardystrophy(OPMD)DistalmusculardystrophyEmery-DreifussmusculardystrophyCongenitalmusculardystrophyDifferentdistributionofmuscleweaknessandatrophy1.Duchenne/Becker2.Emer

5、y-Dreifuss3.Limb-girdle4.Fascioscapulohumeral5.Distal6.OculopharyngealTheInheritancePatternofMuscularDystrophiesSex-linkedMDsDuchenne（杜兴型）Becker（贝克型）Emery-DreifussAutosomaldominantMDsFascioscapulohumeral（面肩肱型）Limb-girdle(肢带型）Distal（远端型）Ocular（眼型）Oculopha

6、ryngeal（眼咽型）AutosomalrecessiveMD-limb-girdleformPseudohypertrophicMuscularDystrophiesDystrophin-deficientdystrophiesDystrophinopathiesDuchenneandBeckerG.B.ADuchenneaFrenchneurologist1868EtiologyandPathogenesisMutationsofdystrophingeneAlargestgeneLocatedon

7、theshortarmoftheXchromosome(Xp21)Approximately3millionbasepairsinlengthEncoding79exonsLossofdystrophinprotein(抗肌萎缩蛋白）A427kdproteinLocalizedtothesarcolemma（肌膜）presentinskeletal,cardiacmuscle,cerebralcortex,etcDystrophinGeneandProteinFunctionofDystrophinDys

8、trophinisacomponentoftheplasmamembranecytoskeleton（细胞骨架）ItformsthestructuralbasisformechanicalstabilizationofsarcolemmaduringcontractionandrelaxationofmusclefibersGeneticsofDMDDMDisthemostcommonandsevereMDX-linkedre