【摘要】： 正 腓骨肌萎缩症又称神经性进行性肌萎缩症(Charcot-Marie-Tooth),系一慢性进行性周围神经的遗传变性疾病。本疾病虽然没有进行肌肉和神经活检,但临床体征典型,有明确家族遗传史,肌电图检查符合周...
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脊髓性肌萎缩症 spinal muscular atrophy
神经疼痛性肌萎缩症 neuralgic amyotrophy
脊髓性肌肉萎缩症 spinal muscular atrophy ; Spinal Muscle Atrophy
脊髓进行性肌萎缩症 progressive spinal muscular atrophy
进行性脊髓性肌萎缩症 progressive spinal muscular atrophy
进行性脊肌萎缩症 Progressive spinal muscular atrophy ; progressive spinal atrophy ; Progressive muscular atrophy
性肌肉萎缩症 facioscapulohumeral muscular dystrophy ; Limb girdle type ; Facio-scapulo-humeral type
家族性肌萎缩硬化症 familial amyotrophic lateral sclerosis
和进行性脊肌萎缩症 Progressive muscular atrophy ; PMA
方法分析13例婴儿型脊髓性肌萎缩症患儿的临床资料。
Methods The clinical data of 13 infants suffering from infantile spinal muscular atrophy were analysed.
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.
目的探讨婴儿型脊髓性肌萎缩症的临床、电生理特点及基因诊断的临床意义。
Objective To investigate the clinical and electrophysiology features of infantile spinal muscular atrophy, and explore the clinical significance of genetic diagnosis.
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