儿童神经肌肉疾病及其复健(精).ppt

兒童神經肌肉疾病及其復健 天主教台東聖母醫院物理治療師陳志軒 今日主題 何謂神經肌肉疾病 基本解剖學介紹臨床上常見的兒童神經肌肉病變復健的處理 中樞神經系統 人體的運動單位 人體的運動單位 前角細胞 ant horncell 脊髓神經根 spinalroots 週邊神經 peripheralnerve 神經肌肉交界處 neuromuscularjunction 肌肉 muscle 神經肌肉病變 泛指運動單位 motorunit 的某一部分因病變的影響 而造成臨床上肌肉無力張力過低基腱反射降低肌肉萎縮等下運動神經元症候群的症狀 兒童常見的神經肌肉病變 肌肉疾病裘馨氏肌肉萎縮症貝克型肌肉萎縮症運動神經元疾病小兒麻痺脊髓性肌肉萎縮症脊髓膨出症週邊神經臂神經叢受損 裘馨氏肌肉萎縮症Duchennemusculardystrophy DMD Duchennemusculardystrophy DMD iscausedbyanalteredgenefoundontheX chromosome sotheconditionusuallyaffectsonlyboys Insomecases thedisorderappears outoftheblue followinganewmutationintheunfertilisedegg Inothers DMDisinheritedfromacarriermother whoisusuallyunaffectedherself Acarriermotherhasaone in fourchanceofhavinganaffectedsonandaone in fourchanceofhavingacarrierdaughter 學齡前可發現的現象 Gower ssign 骨盆及軀幹肌肉無力的現象常出現在DMD的小孩 肌肉組織切片 脊椎變形 貝克型肌肉萎縮症BeckerMuscularDystrophy Symptoms Generalizedweaknessandmusclewastingaffectinglimbandtrunkmusclesfirst Calvesoftenenlarged AlmostidenticaltoDuchennebutoftenmuchlesssevere Canbesignificantheartinvolvements Onset AdolescenceoradulthoodProgression Diseaseprogressesslowlyandwithvariabilitybutwillaffectallvoluntarymuscles Survivalwellintomidtolateadulthood Calfmusclesinitiallyenlarge anattemptbythebodytocompensateforlossofmusclestrength buttheenlargedmuscletissueiseventuallyreplacedbyfatandconnectivetissue pseudohypertrophy Cardiomyopathymayoccur butthedevelopmentofcongestiveheartfailureorarrhythmias irregularheartbeats israre X linkedrecessive femalesarecarriersBeckerMuscularDystrophy BMD isoneoftheninetypesofmusculardystrophyandisconsideredthemoremildcousinofDuchenneMuscularDystrophy themostcommoninheritedchildhoodlethaldisorderofhumankind BMDdiseaseaffectsapproximately1in30 000malebirthsregardlessofraceorethnicity andthereareanestimated100 000BMDpatientsworldwide HowisBMDdifferentfromDMD BMDislessseverelydisablingthenDMD Anarbitarymeansofdistinguishingthetwodisordersdependsonwhethertheaffectedpersoncanstillwalkatage16years Musclebiopsytendstoshowmoreorlessseverechanges relatedtotheseverityofdisability SincethediscoverythatdystrophinisdefectiveinDMDandBMD butmoreseverelydefectiveinDMD examinationofdystrophininmusclebiopsysamplescanbeusedtodistinguishthem DMD及BMD常見問題總結 肌肉無力關節角度不足生活功能逐漸降低心肺功能逐漸受影響情緒困擾脊椎變形 復健治療 預防關節變形主動運動延長行走時間輪椅的使用體重控制預防脊椎變形心肺能力訓練 運動的項目 牽拉運動運動強度 避免過量及抗力運動避免代償運動若經過一夜休息仍覺得酸痛表示運動太強烈 支架的使用 支架的使用增加行走年齡的增加預防關節的contracure 多讓他有站立的機會 輪椅使用 在其他移行能力能力都無法使用時才建議使用輪椅姿勢擺位的重要 其他肌肉萎縮疾病 Facioscapulohumeralmusculardystrophy 脊髓膨出症 Spinabifidus 水腦症Hydrocephalus Chiariiimalformation SagittalT1 weightedMRimagedemonstratingdownwardherniationofthecerebellumandmedulla elongatedfourthventricleandacervicomedullarykinkatthejunctionofmedullaandcordintheuppercervicalcanal 水腦症Hydrocephalus Surgerywillhelptoreducetheriskofinfection meningitis andreducetheprogressionoflong termdisability Considerationsforpatientsandtheirfamilies Thediagnosisofspinabifidamaybedevastatingfortheparentsofthesechildren Theneurosurgeon srolenotonlyincludesoperativemanagementbutalsoeducation Childrenbornwithamyelomeningocelehavea90 chanceofsurvival 其他問題 80 chanceofnormalintelligencearoundan85 chanceofwalkingwithorwithoutassistance Long termproblemsinclude shortstature lackoflegdevelopment scoliosis bowelandbladderdifficulties 復健的處理及預後 脊髓性肌肉萎縮症 spinalmuscleatrophy SMA 此為幼兒最常見肌肉神經病變前角