脊髓性肌肉萎缩症（SpinalMuscularAtrophy）是最常见的致死性神经肌肉疾病之一，是由于脊髓前角细胞运动神经元变性，导致患者近端肌肉对称性、进行性萎缩和无力，最终导致呼吸衰竭甚至死亡，居致死性常染色体遗传病第二位。属于常染色体隐性遗传病。发病率为1/6000~1/10000，若夫妻双方生过一个SMA患儿，则再生患儿的概率为25%，生无症状的携带者的概率为50%，生一个正常的孩子的概率为25%。
...脊髓性肌肉萎缩症; 运动神经元存活基因 [gap=1057]Key words: multiplex ligation-dependent probe amplification; spinal muscular atrophy; survival motor neuron gene ...
基于2812个网页-相关网页
脊髓延髓性肌肉萎缩症 Spinal and Bulbar Muscular Atrophy
在22岁的时候他被诊断患有肌肉和神经系统不可治愈的疾病——肌肉萎缩性脊髓侧索硬化症，并且医生说他的寿命不会很长。
Doctors gave him only a limited lifespan after he was diagnosed at the age age of 22 with the incurable disease of the muscles and nervous system, Amyotrophic Lateral Sclerosis.
肌萎缩性脊髓侧索硬化症是种神经肌肉疾病，它影响到大脑将指令(包括呼吸指令)传送到肌肉的能力。
Amyotrophic lateral sclerosis is a neuromuscular disease that affects the brain's ability to send messages to muscles, including those used for respiration.
儿童型脊髓性肌萎缩症是常见的遗传性神经肌肉病，为常染色体隐性遗传。
Spinal muscular atrophy in childhood is one of the most common neuromuscular disorders with an autosomal recessive mode of inheritance.
应用推荐