儿童神经肌肉疾病及其复健精.pptx

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n n何謂神經肌肉疾病?基本解剖學介紹n n臨床上常見的兒童神經肌肉病變n n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n n前角細胞(ant.horn cell)n n脊髓神經根(spinal roots)n n週邊神經(peripheral nerve)n n神經肌肉交界處(neuromuscular junction)n n肌肉(muscle)神經肌肉病變n n泛指運動單位(motor unit)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n n肌肉疾病肌肉疾病 裘馨氏肌肉萎縮症裘馨氏肌肉萎縮症 貝克型肌肉萎縮症貝克型肌肉萎縮症n n運動神經元疾病運動神經元疾病 小兒麻痺小兒麻痺 脊髓性肌肉萎縮症脊髓性肌肉萎縮症 脊髓膨出症脊髓膨出症n n週邊神經週邊神經 臂神經叢受損臂神經叢受損裘馨氏肌肉萎縮症裘馨氏肌肉萎縮症Duchennemusculardystrophy(DMD)n nDuchenne muscular dystrophy(DMD)is Duchenne muscular dystrophy(DMD)is caused by an altered gene found on the caused by an altered gene found on the X-chromosome,X-chromosome,so the condition usually so the condition usually affects only boysaffects only boys.In some cases,the.In some cases,the disorder appears out of the blue,disorder appears out of the blue,following a new mutation in the following a new mutation in the unfertilised egg.In others,DMD is unfertilised egg.In others,DMD is inherited from a carrier mother,who is inherited from a carrier mother,who is usually unaffected herself.usually unaffected herself.A carrier A carrier mother has a one-in-four chance of mother has a one-in-four chance of having an affected son and a one-in-four having an affected son and a one-in-four chance of having a carrier daughterchance of having a carrier daughter.學齡前可發現的現象Gowerssignn n骨盆及軀幹肌肉無力的現象n n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BeckerMuscularDystrophySymptoms:n nGeneralized weakness and muscle wasting affecting limb and trunk muscles first.n nCalves often enlarged.n n Almost identical to Duchenne but often much less severe.n n Can be significant heart involvements.Onset:Onset:n nAdolescence or adulthoodn nProgression:Disease progresses slowly and with Disease progresses slowly and with variability but will affect all variability but will affect all voluntary muscles.Survival well voluntary muscles.Survival well into mid to late adulthoodinto mid to late adulthoodn nCalf muscles initially enlargeCalf muscles initially enlarge(an (an attempt by the body to compensate attempt by the body to compensate for loss of muscle strength),but the for loss of muscle strength),but the enlarged muscle tissue is eventually enlarged muscle tissue is eventually replaced by fat and connective tissue replaced by fat and connective tissue(pseudohypertrophy).(pseudohypertrophy).n nCardiomyopathy may occur,but the Cardiomyopathy may occur,but the development of congestive heart development of congestive heart failure or arrhythmias(irregular failure or arrhythmias(irregular heartbeats)is rare.heartbeats)is rare.n nX-linked recessive X-linked recessive(females are carriers(females are carriersn nBecker Muscular Becker Muscular Dystrophy(BMD)is one of Dystrophy(BMD)is one of the nine types of muscular the nine types of muscular dystrophy and is dystrophy and is considered the more mild considered the more mild cousin of Duchenne cousin of Duchenne Muscular Dystrophy,the Muscular Dystrophy,the most common inherited most common inherited childhood lethal disorder childhood lethal disorder of humankind.BMD of humankind.BMD disease affects disease affects approximately 1 in 30,000 approximately 1 in 30,000 male births regardless of male births regardless of race or ethnicity,and race or ethnicity,and there are an estimated there are an estimated 100,000 BMD patients 100,000 BMD patients worldwide.worldwide.HowisBMDdifferentfromDMD?n nBMD is less severely disabling then DMDBMD is less severely disabling then DMD.An.An arbitary means of distinguishing the two arbitary means of distinguishing the two disorders depends on whether the affected disorders depends on whether the affected person can still walk at age 16 years.Muscle person can still walk at age 16 years.Muscle biopsy tends to show more or less severe biopsy tends to show more or less severe changes,related to the severity of disability.changes,related to the severity of disability.n nSince the discovery that dystrophin is Since the discovery that dystrophin is defective in DMD and BMD,but more defective in DMD and BMD,but more severely defective in DMD,examination of severely defective in DMD,examination of dystrophin in muscle biopsy samples can be dystrophin in muscle biopsy samples can be used to distinguish them.used to distinguish them.DMD及BMD常見問題總結n n肌肉無力n n關節角度不足n n生活功能逐漸降低n n心肺功能逐漸受影響n n情緒困擾n n脊椎變形復健治療n n預防關節變形n n主動運動n n延長行走時間n n輪椅的使用n n體重控制n n預防脊椎變形n n心肺能力訓練運動的項目n n牽拉運動n n運動強度:避免過量及抗力運動n n避免代償運動n n若經過一夜休息仍覺得酸痛表示運動太強烈支架的使用n n支架的使用增加行走年齡的增加n n預防關節的contracure多讓他有站立的機會輪椅使用n n在其他移行能力能力都無法使用時才建議使用輪椅n n姿勢擺位的重要其他肌肉萎縮疾病n nFacioscapulohumeral muscular dystrophy 脊髓膨出症(Spinabifidus)水腦症Hydrocephalusn n Chiariiimalformationn nSagittalT1-weightedMRimagedemonstratingdownwardherniationofthecerebellumandmedulla,elongatedfourthventricleandacervicomedullarykinkatthejunctionofmedullaandcordintheuppercervicalcanal水腦症Hydrocephalusn nSurgery will help to reduce the risk of infection(meningitis)and reduce the progression of long-term disability.Considerationsforpatientsandtheirfamiliesn nThe diagnosis of spina bifida may be The diagnosis of spina bifida may be devastating for the parents of these devastating for the parents of these children.The neurosurgeonchildren.The neurosurgeon s role not only s role not only includes operative management includes operative management but also but also educationeducation.n nChildren born with a myelomeningocele Children born with a myelomeningocele have a 90%chance of survival.have a 90%chance of survival.其他問題n n 80%chance of normal intelligence n naround an 85%chance of walking with or without assistance.n n Long-term problems include:short stature,lack of leg development,scoliosis,bowel and bladder difficulties復健的處理及預後脊髓性肌肉萎縮症(spinalmuscleatrophy,SMA)n n此為幼兒最常見肌肉神經病變n n前角細胞及部分腦神經運動核退化導致肌肉萎縮體染色體隱性遺傳S.M.A.n n四肢無力像青蛙n n呼吸困難小兒麻痺症n n小兒麻痺病毒感染前角細胞及延腦細胞導致所支配的肌肉麻痺n n現在已經很少見但須注意小兒麻痺後期症候群(post polio syndrome)臂神經叢受損(BrachialPlexusInjury,BPI)醫療處理n n神經接合手術n n復健處理 肌力訓練肌力訓練 電刺激電刺激