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脊髓性肌萎缩 (spinalmusculararophy ,SMA)是以脊髓前角运动神经元变性、缺失为特征的遗传性神经肌肉疾病 ,临床表现为进行性、对称性肌肉萎缩及肌肉无力。根据发病年龄、病变程度可将本病分为 4型[1] ,除Ⅳ型为成人型SMA外 ,Ⅰ～Ⅲ型均为儿童型SMA ,属常染色体隐性遗传病 ,发
Spinal muscular atrophy (SMA) is an inherited neuromuscular disease characterized by degeneration and loss of motor neurons in the anterior horn of the spinal cord. The clinical manifestation is progressive, symmetrical muscular atrophy and muscular weakness. According to the age of onset, the degree of disease can be divided into 4 types of disease [1], with the exception of type Ⅳ adult SMA, type Ⅰ ~ Ⅲ are children with SMA, autosomal recessive disease