Analysis of early clinical features of six children with spinal muscular atrophy type Ⅰ

WAN Rui-ping; WU Yan-ling; LI Xiao-li; LI An-fang; LIU Zhi-gang

doi:10.11852/zgetbjzz2018-26-03-32

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Chinese Journal of Child Health Care ›› 2018, Vol. 26 ›› Issue (3) : 341-343. DOI: 10.11852/zgetbjzz2018-26-03-32

Analysis of early clinical features of six children with spinal muscular atrophy type Ⅰ

WAN Rui-ping, WU Yan-ling, LI Xiao-li, LI An-fang, LIU Zhi-gang

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Abstract

Objective To analyze the early clinical features of spinal muscular atrophy type Ⅰ (SMA-Ⅰ). Method Early clinical features and relative assistant examinations of six children with SMA-Ⅰ diagnosed in Foshan Maternal and Child Health Care Hospital from Oct.2015 to Oct.2016 were retrospectively analyzed. Results Gene detection of six children showed homozygous deletion of exon 7,8 of the SMN1 gene,with only 2 copies of SMN2 gene.All children presented with profound weakness of the trunk and limbs,poor head control,lack of active movement,severe hypotonia,absent tendon reflexes,and low crying voice.However,swallowing weakness and feeding intolerance were not obvious before 2 to 3- moth -old infants.Some children were born with joint contracture.Neonatal behavioral neurological assessment (NBNA) was carried out to four of six children.And the total score of NBNA was significantly lower than that of normal level. Conclusions Profound weakness of the trunk and limbs,low crying voice are typical clinical features of SMA-Ⅰ children at the early stage.SMN gene detection should be applied to children with very low NBNA total scores.

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spinal muscular atrophy type Ⅰ / early / clinical feature / neonatal behavioral neurological assessment

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WAN Rui-ping, WU Yan-ling, LI Xiao-li, LI An-fang, LIU Zhi-gang. Analysis of early clinical features of six children with spinal muscular atrophy type Ⅰ[J]. Chinese Journal of Child Health Care. 2018, 26(3): 341-343 https://doi.org/10.11852/zgetbjzz2018-26-03-32

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