脊髓性肌萎缩症患儿营养管理研究进展

Research progress in nutritional management of children with spinal muscular atrophy

脊髓性肌萎缩症(SMA)是一种严重的神经肌肉疾病,因运动神经元存活基因1(SMN 1)缺陷引起。由于肌肉无力、活动量少、消化道症状以及吞咽困难等原因,患儿发生营养不足和营养过剩的概率常明显高于正常儿童,因此SMA的营养管理至关重要。文章就SMA患儿的营养评估、可能出现的营养问题以及相关营养干预策略进行阐述。

Spinal muscular atrophy(SMA)is an autosomal recessive neurodegenerative disease caused by variation in survival motor neuron 1(SMN 1)gene.Due to poor muscle reserves,low physical activity,digestive symptoms and dysphagia,the incidence of undernutrition and overnutrition in SMA children is often significantly higher than that in normal children.Therefore,nutritional management is essential for children with SMA.This paper reviewed the nutritional evaluation,related nutritional proble ms and nutritional intervention for SMA children.