PDF(Pubmed)
Abstract：
BACKGROUND: Flail arm syndrome (FAS) only involves the upper limbs early stage and manifests as proximal weakness and atrophy of both upper limbs and decreased tendon reflexes. As a benign variant type of amyotrophic lateral sclerosis, FAS progresses slowly, with no lower motor neuron signs in the lower limbs or bulbar muscles within 12 months after onset.
METHODS: A 49-year-old male patient was admitted to the hospital with a 15-month history of proximal weakness and muscle atrophy in both upper limbs. His other symptoms and signs were not obvious.
METHODS: Gene test results indicated that there were duplication mutations in the exon 7 to 8 region of the SMN1 gene.
CONCLUSIONS: The abnormal duplication of exons 7 and 8 of the SMN1 gene in this patient may increase the risk of FAS. Further studies are needed to identify the dominant genes and genetic factors causing males to be susceptible to FAS.
METHODS: A 49-year-old male patient was admitted to the hospital with a 15-month history of proximal weakness and muscle atrophy in both upper limbs. His other symptoms and signs were not obvious.
METHODS: Gene test results indicated that there were duplication mutations in the exon 7 to 8 region of the SMN1 gene.
CONCLUSIONS: The abnormal duplication of exons 7 and 8 of the SMN1 gene in this patient may increase the risk of FAS. Further studies are needed to identify the dominant genes and genetic factors causing males to be susceptible to FAS.
摘要：
背景：连臂综合征（FAS）仅累及上肢早期，表现为上肢近端无力和萎缩以及肌腱反射降低。作为肌萎缩侧索硬化的良性变异型,FAS进展缓慢，发病后12个月内，下肢或延髓肌肉没有下运动神经元体征。
方法：一名49岁男性患者入院，有15个月的上肢近端无力和肌肉萎缩病史。其他症状和体征不明显。
方法：基因检测结果表明SMN1基因外显子7～8区存在重复突变。
结论：该患者SMN1基因外显子7和8的异常重复可能会增加FAS的风险。需要进一步的研究来确定导致男性易感FAS的显性基因和遗传因素。
方法：一名49岁男性患者入院，有15个月的上肢近端无力和肌肉萎缩病史。其他症状和体征不明显。
方法：基因检测结果表明SMN1基因外显子7～8区存在重复突变。
结论：该患者SMN1基因外显子7和8的异常重复可能会增加FAS的风险。需要进一步的研究来确定导致男性易感FAS的显性基因和遗传因素。
