儿童神经肌肉疾病及其复健(精)

復健的處理及預後
脊髓性肌肉萎縮症 (spinal muscle atrophy,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
體染色體隱性遺傳
S.M.A.

四肢無力像青蛙 呼吸困難
小兒麻痺症


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 現在已經很少見但須注意小兒麻痺後期症 候群(post polio syndrome)

The diagnosis of spina bifida may be devastating for the parents of these children. The neurosurgeon’s role not only includes operative management but also education.
How is BMD different from DMD?

BMD is less severely disabling then DMD. An arbitary means of distinguishing the two disorders depends on whether the affected person can still walk at age 16 years. Muscle biopsy tends to show more or less severe changes, related to the severity of disability. Since the discovery that dystrophin is defective in DMD and BMD, but more severely defective in DMD, examination of dystrophin in muscle biopsy samples can be used to distinguish them.
貝克型肌肉萎縮症 Becker Muscular Dystrophy
Onset:


Adolescence or adulthood Progression:
Disease progresses slowly and with variability but will affect all voluntary muscles. Survival well into mid to late adulthood
臂神經叢受損 (Brachial Plexus Injury,BPI)
醫療處理

神經接合手術 復健處理
肌力訓練 電刺激


X-linked recessive (females are carriers Becker Muscular Dystrophy (BMD) is one of the nine types of muscular dystrophy and is considered the more mild cousin of Duchenne Muscular Dystrophy, the most common inherited childhood lethal disorder of humankind. BMD disease affects approximately 1 in 30,000 male births regardless of race or ethnicity, and there are an estimated 100,000 BMD patients worldwide.



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

Facioscapulohumeral muscular dystrophy
脊髓膨出症 ( Spina bifidus )
神經肌肉病變

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

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
Children born with a myelomeningocele have a 90% chance of survival..

其他問題


80% chance of normal intelligence around an 85% chance of walking with or without assistance. Long-term problems include: short stature, lack of leg development, scoliosis, bowel and bladder difficulties

裘馨氏肌肉萎縮症 Duchenne muscular dystrophy (DMD)

Duchenne muscular dystrophy (DMD) is caused by an altered gene found on the X-chromosome, so the condition usually affects only boys. In some cases, the disorder appears 'out of the blue', following a new mutation in the unfertilised egg. In others, DMD is inherited from a carrier mother, who is usually unaffected herself. A carrier mother has a one-in-four chance of having an affected son and a one-in-four chance of having a carrier daughter.
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. horn cell ) 脊髓神經根(spinal roots) 週邊神經(peripheral nerve) 神經肌肉交界處(neuromuscular junction) 肌肉(muscle)
水腦症Hydrocephalus

Surgery will help to reduce the risk of infection (meningitis) and reduce the progression of long-term disability.
Considerations for patients and their families
水腦症Hydrocephalus

Chiari ii malformation

Sagittal T1-weighted MR image demonstrating downward herniation of the cerebellum and medulla, elongated fourth ventricle and a cervicomedullary kink at the junction of medulla and cord in the upper cervical canal

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


Calf muscles initially enlarge (an attempt by the body to compensate for loss of muscle strength), but the enlarged muscle tissue is eventually replaced by fat and connective tissue (pseudohypertrophy). Cardiomyopathy may occur, but the development of congestive heart failure or arrhythmias (irregular heartbeats) is rare.
學齡前可發現的現象
Gower’s sign

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
Symptoms: Generalized weakness and muscle wasting affecting limb and trunk muscles first. Calves often enlarged. Almost identical to Duchenne but often much less severe. Can be significant heart involvements.