患有肌肉萎缩症的孩子在父母的陪同下在餐桌上玩拼图游戏
患有肌肉萎缩症的孩子在父母的陪同下在餐桌上玩拼图游戏
患有肌肉萎缩症的孩子在父母的陪同下在餐桌上玩拼图游戏

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

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