婴儿脊髓性进行性肌萎缩国内报道较少,对于本病是否属遗传性疾病还有不同意见,亦未发现有对本病进行家族调查的报告。本文报告一例婴儿脊髓性进行性肌萎缩的家族调查,我们发现男女两性均可受累,而杂合子型临床上无症状,故进一步肯定本病为常染体隐性遗传性疾病。 Infantile spinal progressive muscular atrophy less reported in the country, whether the disease is a genetic disease have different opinions, but also did not find a report of family history of the disease. This article reports a family survey of progressive spinal muscular atrophy in infants. We found that both men and women were affected, whereas heterozygous ones were clinically asymptomatic and thus further confirmed the disease as an autosomal recessive hereditary disease.