遗传性脊髓性肌萎缩症为一组家族性遗传性疾病,临床表现为四肢近端肌肉力弱、萎缩,主要病理改变为脊髓前角细胞的变性、丧失。最早认识的为婴儿型脊性肌萎缩(Werdning—Hoffmann病),1954年Kuge lberg—Welander又报告了一组儿童期发病,进展缓慢的病人,以前曾诊断为肌营养不良,但肌电图及活检显示神经原性(Kugelberg—Welander病)。兹后文献上出现大量的病例报告,发病年龄亦见于成人,遗传型式 Hereditary spinal spinal muscular atrophy is a group of familial hereditary diseases, clinical manifestations of proximal limb muscle weakness, atrophy, the main pathological changes of spinal cord anterior horn cells degeneration and loss. The earliest known episode of Werdning-Hoffmann disease was Kugelberg-Welander in 1954 who reported a group of patients with childhood onset and slow progression that had previously been diagnosed as muscular dystrophy but electromyography Biopsy shows neurogenic (Kugelberg-Welander disease). Since then there have been a large number of cases reported in the literature, age of onset also found in adults, genetic type