（肌营养不良）课件

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1、Themolecularbasisofmusculardystrophy(肌营养不良)WenyaHouXueJingYitangWangJiezhongZhangOUTLINEINTRODUCTIONDuchennemusculardystrophy(DMD)DysfelinTherapeuticApproachesandperspectiveaquarterofamillionkidsandadultsarelivingwiththedisease,sochancesareyoumayknowsomeonewhohasit.Whatis

2、MuscularDystrophy?Themusculardystrophies(MD)areagroupofmorethan30geneticdiseasescharacterizedbyprogressiveweaknessanddegenerationoftheskeletalmusclesthatcontrolmovement.SomeformsofMDareseenininfancyorchildhood,whileothersmaynotappearuntilmiddleageorlater.Musculardystrophie

3、singeneralareagroupofgenetic,degenerativediseasesprimarilyaffectingvoluntarymuscles.Healthymuscletissue(left).Musculardystrophy(right).HOWTORECOGNIZEIFMUSCLEWEAKNESSISCAUSEDBYMUSCULARDYSTROPHYMostlyaffectsboys(rarelygirls).Oftenbrothersormalerelativeshavesameproblem.Firsts

4、ignsappeararoundages3to5:thechildmayseemawkwardorclumsy,orhebeginstowalk'tiptoe'becausehecannotputhisfeetflat.Runsstrangely.Fallsoften.Problemgetssteadilyworseoverthenextseveralyears.HOWTORECOGNIZEIFMUSCLEWEAKNESSISCAUSEDBYMUSCULARDYSTROPHYMuscleweaknessfirstaffectsfeet,fr

5、ontsofthighs,hips,belly,shoulders,andelbows.Later,itaffectshands,face,andneckmuscles.Mostchildrenbecomeunabletowalkbyage10.Maydevelopaseverecurveofthespine.Heartandbreathingmusclesalsogetweak.Childusuallydiesbeforeage20fromheartfailure.Thereareprobablyninetypesofmusculardy

6、strophy.Duchennemusculardystrophy(DMD)Beckermusculardystrophy(BMD)Emery-Dreifussmusculardystrophy(EDMD)Limb-girdlemusculardystrophy(LGMD)Facioscapulohumeralmusculardystrophy(FSHD)Myotonic(pronounced:my-uh-tah-nick)dystrophy(MMD)OculopharyngealMuscularDystrophy(OPMD)DistalM

7、uscularDystrophy(DD)Congenitalmusculardystrophy(CMD)Duchennemusculardystrophy(DMD)Definition-Oneofninetypesofmusculardystrophy,agroupofgenetic,degenerativediseasesprimarilyaffectingvoluntarymuscles.Cause-Anabsenceofdystrophin,aproteinthathelpskeepmusclecellsintact.DMDOnset

8、-Earlychildhood-about2to6years.Symptoms-Generalizedweaknessandmusclewastingfirstaffecting