1) infantile spinal muscular atrophy
婴儿型脊肌萎缩症
1.
Objective:To explore the features of electrical physiology and diagnosis in early stage of infantile spinal muscular atrophy.
目的:分析婴儿型脊肌萎缩症患儿的临床及电生理表现,探讨本病的临床特点及早期诊断。
2) 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
3) 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
4) werdnig-hoffmann disease
韦德尼希-霍夫曼病,又称"婴儿型脊髓性肌萎缩"
5) Adult spinal muscular atrophy
成人型脊髓性肌萎缩症
补充资料:婴儿型脊髓进行性肌萎缩
婴儿型脊髓进行性肌萎缩
progressive musculal atrophy
一种遗传性疾病。病变为脊髓前角细胞及延髓运动核的退行性病变。临床表现为严重的肌张力减低及自主运动的丧失。生存约1年,无特殊疗法。
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参考词条