儿童神经肌肉疾病及其复健

儿童神经肌肉疾病及其复健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2020/11/42中樞神經系統2020/11/43人體的運動單位2020/11/44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)2020/11/45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2020/11/46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2020/11/47

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.2020/11/482020/11/49學齡前可發現的現象2020/11/4102020/11/411Gower’ssign骨盆及軀幹肌肉無力的現象常出現在DMD的小孩2020/11/412肌肉組織切片2020/11/413脊椎變形2020/11/414

貝克型肌肉萎縮症

BeckerMuscularDystrophySymptoms:

Generalizedweaknessandmusclewastingaffectinglimbandtrunkmusclesfirst.Calvesoftenenlarged.AlmostidenticaltoDuchennebutoftenmuchlesssevere.Canbesignificantheartinvolvements.2020/11/415Onset:AdolescenceoradulthoodProgression:Diseaseprogressesslowlyandwithvariabilitybutwillaffectallvoluntarymuscles.Survivalwellintomidtolateadulthood2020/11/416Calfmusclesinitiallyenlarge(anattemptbythebodytocompensateforlossofmusclestrength),buttheenlargedmuscletissueiseventuallyreplacedbyfatandconnectivetissue(pseudohypertrophy).Cardiomyopathymayoccur,butthedevelopmentofcongestiveheartfailureorarrhythmias(irregularheartbeats)israre.2020/11/417X-linkedrecessive(femalesarecarriersBeckerMuscularDystrophy(BMD)isoneoftheninetypesofmusculardystrophyandisconsideredthemoremildcousinofDuchenneMuscularDystrophy,themostcommoninheritedchildhoodlethaldisorderofhumankind.BMDdiseaseaffectsapproximately1in30,000malebirthsregardlessofraceorethnicity,andthereareanestimated100,000BMDpatientsworldwide.2020/11/4182020/11/419HowisBMDdifferentfromDMD

BMDislessseverelydisablingthenDMD.Anarbitarymeansofdistinguishingthetwodisordersdependsonwhethertheaffectedpersoncanstillwalkatage16years.Musclebiopsytendstoshowmoreorlessseverechanges,relatedtotheseverityofdisability.

SincethediscoverythatdystrophinisdefectiveinDMDandBMD,butmoreseverelydefectiveinDMD,examinationofdystrophininmusclebiopsysamplescanbeusedtodistinguishthem.

2020/11/420DMD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2020/11/421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2020/11/422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2020/11/423支架的使用支架的使用增加行走年齡的增加預防關節的contracure2020/11/424多讓他有站立的機會2020/11/425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2020/11/426其他肌肉萎縮疾病Facioscapulohumeralmusculardystrophy2020/11/427脊髓膨出症

(Spinabifidus)2020/11/428水腦症Hydrocephalus

2020/11/429ChiariiimalformationSagittalT1-weightedMRimagedemonstratingdownwardherniationofthecerebellumandmedulla,elongatedfourthventricleandacervicomedullarykinkatthejunctionofmedullaandcordintheuppercervicalcanal2020/11/430水腦症Hydrocephalus

2020/11/431Surgerywillhelptoreducetheriskofinfection(meningitis)andreducetheprogressionoflong-termdisability.2020/11/432Considerationsforpatientsandtheirfamilies

Thediagnosisofspinabifidamaybedevastatingfortheparentsofthesechildren.Theneurosurgeon’srolenotonlyincludesoperativemanagementbutalsoeducation.Childrenbornwithamyelomeningocelehavea90%chanceofsurvival..2020/11/433其他問題80%chanceofnormalintelligencearoundan85%chanceofwalkingwithorwithoutassistance.Long-termproblemsinclude:shortstature,lackoflegdevelopment,scoliosis,bowelandbladderdifficulties2020/11/434復健的處理及預後2020/11/435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細胞及部分腦神經運動核退化導致肌肉萎縮2020/11/436體染色體隱性遺傳2020/11/437S.M.A.四肢無力像青蛙呼吸困難