1) spinal muscular atrophy
脊肌萎缩症
1.
Clinical features and inheritance analysis of 23 cases of spinal muscular atrophy;
儿童脊肌萎缩症23例临床特点及遗传学分析
2.
Prenatal diagnosis of spinal muscular atrophy based on amniotic fluid cells culturing;
羊水细胞培养进行脊肌萎缩症的产前诊断
3.
Preliminary study on survival motor neuron gene deletion of exon 7 in adult onset patients with spinal muscular atrophy;
成年起病脊肌萎缩症SMN基因外显子7缺失的初探
2) Spinal muscular atrophy
脊髓性肌萎缩症
1.
Quantitative studies on SMN1 gene and carrier testing of spinal muscular atrophy;
脊髓性肌萎缩症SMN1基因定量研究及基因携带者的筛查(英文)
2.
Rapid diagnosis of spinal muscular atrophy using denaturing high-performance liquid chromatography;
应用变性高效液相色谱技术快速诊断儿童型脊髓性肌萎缩症(英文)
3.
Prenatal diagnosis of spinal muscular atrophy based on umbilical cord blood;
胎儿脐带血产前诊断脊髓性肌萎缩症
3) Amyotrophic lateral sclerosis(ALS)
肌萎缩脊髓侧索硬化症
4) childhood-onset spinal muscular atrophy
儿童型脊髓性肌萎缩症
1.
Prenatal diagnosis in seven families with childhood-onset spinal muscular atrophy;
儿童型脊髓性肌萎缩症家系7例产前诊断
5) progressive spinal muscular atrophy
进行性脊肌萎缩症
1.
Clinical analysis of 129 cases of progressive spinal muscular atrophy;
进行性脊肌萎缩症129例临床分析
6) Adult spinal muscular atrophy
成人型脊髓性肌萎缩症
补充资料：肌萎缩性侧索硬化症
肌萎缩性侧索硬化症
一种原因未明的进行性的神经系统变性疾病，可能与遗传、中毒、损伤、感染有关。突出的病理变化为皮质延髓束和皮质脊髓束的变性，脊髓前角细胞以及脑干运动神经核的损害。锥体束的变性最早出现在脊髓比较低的部位，随病程进展，逐渐向高位脊髓及脑干推进。肌肉表现有神经性肌萎缩的典型征象。临床特点为：多数病人发生于30～50岁之间，男性较女性发病率高。患者可有麻木和发凉等感觉异常，肌肉无力，挛缩，肌束颤动及萎缩，持久性腱反射亢进和病理反射，随时间增长，无力症状扩展到躯干及颈部，最后累及面部及延髓支配的肌肉，出现其相应症状和体征。本病无特殊治疗措施。
说明：补充资料仅用于学习参考，请勿用于其它任何用途。
参考词条