肌肉萎缩症和神经肌肉疾病的类型
肌肉萎缩症有哪些不同类型?
肌肉萎缩症是一组以肌肉组织衰弱和萎缩为特征的遗传性疾病, 不管有没有神经组织的破坏. 肌肉萎缩症有9种类型, 每种类型最终都会导致力量的丧失, 越来越多的残疾, 以及可能的畸形.
最著名的肌肉萎缩症是 杜氏肌营养不良(DMD), followed by 贝克肌营养不良(BMD).
下面列出了9种不同类型的肌肉萎缩症. 每种类型在受影响的肌肉、发病年龄和发展速度上都有所不同. 有些类型以受影响的肌肉命名,包括:
Type | Age at onset | 症状,进展速度和预期寿命 |
---|---|---|
Becker | 青春期至成年早期 |
Age at onset Age at onset 症状与杜氏综合症几乎相同, but less severe; progresses more slowly than Duchenne; survival into middle age. 与杜氏病一样,该病几乎总是局限于男性. |
Congenital | birth |
Age at onset Age at onset Symptoms include general muscle weakness and possible joint deformities; disease progresses slowly; shortened life span. |
Duchenne | 2 to 6 years |
Age at onset Age at onset Symptoms include general muscle weakness and wasting; affects pelvis, upper arms, and upper legs; eventually involves all voluntary muscles; survival beyond 20s is rare. Seen in boys only. 很少会影响女性,她们的症状较轻,预后较好. |
Distal | 40 to 60 years |
Age at onset Age at onset 症状包括手部肌肉无力和萎缩, forearms, and lower legs; progression is slow; rarely leads to total incapacity. |
Emery-Dreifuss | 童年至青少年早期 |
Age at onset Age at onset 症状包括虚弱和肩部萎缩, upper arm, and shin muscles; joint deformities are common; progression is slow; sudden death may occur from cardiac problems. |
Facioscapulohumeral | 从童年到成年早期 |
Age at onset Age at onset Symptoms include facial muscle weakness and weakness with some wasting of shoulders and upper arms; progression is slow with periods of rapid deterioration; life span may be many decades after onset. |
Limb-Girdle | 从童年晚期到中年 |
Age at onset Age at onset 症状包括虚弱和消瘦, affecting shoulder girdle and pelvic girdle first; progression is slow; death is usually due to cardiopulmonary complications. |
Myotonic | 20 to 40 years |
Age at onset Age at onset Symptoms include weakness of all muscle groups accompanied by delayed relaxation of muscles after contraction; affects face, feet, hands, and neck first; progression is slow, 有时跨越50到60年. |
Oculopharyngeal | 40 to 70 years |
Age at onset Age at onset 症状影响眼睑和喉咙肌肉,导致喉咙肌肉衰弱, which, in time, causes inability to swallow and emaciation from lack of food; progression is slow. |
还有哪些神经肌肉疾病?
- 脊髓性肌肉萎缩
- 肌萎缩性侧索硬化症(ALS)或运动神经元疾病
- 婴儿进行性脊髓性肌萎缩症
- 中度脊髓性肌萎缩
- 青少年脊髓性肌萎缩症
- 成人脊髓性肌萎缩症
- 炎性肌病
- Dermatomyositis
- Polymyositis
- 包涵体肌炎
- 周围神经疾病
- 沙克-玛丽牙病
- Dejerine-Sottas疾病
- Friedreich's ataxia
- 神经肌肉连接处疾病
- Myasthenia gravis
- Lambert-Eaton综合症
- Botulism
- 肌肉代谢疾病
- 酸性麦芽糖酶缺乏
- 肉毒碱缺乏症
- 肉碱棕榈酰转移酶缺乏症
- 脱支酶缺乏症
- 乳酸脱氢酶缺乏
- 线粒体肌病
- 肌腺苷酸脱氨酶缺乏症
- 磷酸化酶缺乏症
- 磷酸果糖激酶缺乏症
- 磷酸甘油酸激酶缺乏
- 不常见的肌病
- 中心核病
- 甲状腺亢进肌病
- Myotonia congenita
- Myotubular myopathy
- Nemaline myopathy
- Paramyotonia congenita
- 周期性paralysis-hypokalemic-hyperkalemic