脊肌萎缩症

定义

脊髓性肌肉萎缩症（SMA）是一种进行性疾病，前角细胞的丧失导致了肌肉无力和萎缩。肌无力通常是对称性的。通常情况下，上运动神经元体征不存在，也没有感觉障碍。进食和吞咽可能受到影响，呼吸肌也可能受到影响。SMA是一种常染色体隐性遗传病，与染色体5q13相连，该病是由SMN 1（脊髓运动神经元1）基因的缺失或突变引起。根据发病年龄和达到运动里程碑的能力，可将SMA分为I、II、III和IV四种类型。

Spinal muscular atrophy (SMA) is a progressive disorder with loss of anterior horn cells leading to muscle weakness and wasting. The weakness is typically symmetrical. Typically, upper motor neuron signs are absent and there is no sensory deficit. Feeding and swallowing can be affected, and involvement of respiratory muscles may occur. SMA is an autosomal recessive disorder linked to chromosome 5q13 and the disorder is caused by deletion or mutation of SMN 1 (spinal motor neuron 1) gene. The four types of SMA I, II, III and IV are categorised based on the age of onset of the disease and the ability to achieve motor milestones.

子条目 共 7 条

• 8B61.0婴儿型脊髓性肌萎缩，I型
• 8B61.1迟发性婴儿型脊髓性肌萎缩，II型
• 8B61.2少年型脊肌萎缩症，III型
• 8B61.3成人型脊髓性肌萎缩，IV型
• 8B61.4局限性脊髓性肌萎缩
• 8B61.Y其他特指的脊髓性肌萎缩
• 8B61.Z脊髓性肌萎缩，未特指