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1、儿童神经肌肉疾病及其复健 今日主题n n何谓神经肌肉疾病? 基本解剖学介绍n n临床上常见的儿童神经肌肉病变n n复健的处理中枢神经系统人体的运动单位人体的运动单位n n前角细胞(ant. horn cell )n n脊髓神经根(spinal roots)n n外围神经(peripheral nerve)n n神经肌肉交界处(neuromuscular junction)n n肌肉(muscle)神经肌肉病变n n泛指运动单位(motor unit)的某一部分因病变的影响, 而造成临床上 肌肉无力 张力过低 基腱反射降低 肌肉萎缩 等下运动神经元症候群的症状 儿童常见的神经肌肉病变n n肌肉疾
2、病肌肉疾病 裘馨氏肌肉萎缩症裘馨氏肌肉萎缩症 贝克型肌肉萎缩症贝克型肌肉萎缩症n n运动神经元疾病运动神经元疾病 小儿麻痹小儿麻痹 脊髓性肌肉萎缩症脊髓性肌肉萎缩症 脊髓膨出症脊髓膨出症n n外围神经外围神经 臂神经丛受损臂神经丛受损裘馨氏肌肉萎缩症裘馨氏肌肉萎缩症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
3、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
4、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 o
5、f 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. .学龄前可发现的现象Gowerssignn n骨盆及躯干肌肉无力的现象n n常出现在DMD的小孩肌肉组织切片脊椎变形贝克型肌肉萎缩症BeckerMuscularDystrophySymptoms:n nGeneralized weakness and muscle wasting aff
6、ecting 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
7、 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
8、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 o
9、ccur, 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 carri
10、ersn 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 D
11、ystrophy, 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,
12、 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 arbit
13、ary 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 change
14、s, 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
15、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常见问题总结n n肌肉无力n n关节角度不足n n生活功能逐渐降低n n心肺功能逐渐受影响n n情绪困扰n n脊椎变形复健治疗n n预防关节变形n n主动运动n n延长行走时间n n轮椅的使用n n体重控制n n预防脊椎变形n n心肺能力训练运动的项目n n牵拉运动n
16、 n运动强度: 避免过量及抗力运动n n避免代偿运动n n若经过一夜休息仍觉得酸痛表示运动太强烈支架的使用n n支架的使用增加行走年龄的增加n n预防关节的contracure多让他有站立的机会轮椅使用n n在其他移行能力能力都无法使用时才建议使用轮椅n n姿势摆位的重要其他肌肉萎缩疾病n nFacioscapulohumeral muscular dystrophy 脊髓膨出症(Spinabifidus)水脑症Hydrocephalusn n Chiariiimalformationn nSagittalT1-weightedMRimagedemonstratingdownwardherni
17、ationofthecerebellumandmedulla,elongatedfourthventricleandacervicomedullarykinkatthejunctionofmedullaandcordintheuppercervicalcanal水脑症Hydrocephalusn nSurgery will help to reduce the risk of infection (meningitis) and reduce the progression of long-term disability. Considerationsforpatientsandtheirfa
18、miliesn 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 managemen
19、t 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. 其他问题n n 80% chance of normal intelligence n naround an 85% chance of walking with or without assistance.n n Long-term
20、 problems include: short stature, lack of leg development, scoliosis, bowel and bladder difficulties复健的处理及预后脊髓性肌肉萎缩症(spinalmuscleatrophy,SMA)n n此为幼儿最常见肌肉神经病变n n前角细胞及部分脑神经运动核退化导致肌肉萎缩体染色体隐性遗传S.M.A.n n四肢无力像青蛙n n呼吸困难小儿麻痹症n n小儿麻痹病毒感染前角细胞及延脑细胞导致所支配的肌肉麻痹n n现在已经很少见但须注意小儿麻痹后期症候群(post polio syndrome)臂神经丛受损(BrachialPlexusInjury,BPI)医疗处理n n神经接合手术n n复健处理 肌力训练肌力训练 电刺激电刺激
