由于 SMN1 基因中的重复突变导致的连枷臂综合征：一例报告。
Flail arm syndrome due to duplication mutations in the SMN1 gene: A case report.
机构信息
Department of Neurology, Shenzhen Longhua District Central Hospital, Shenzhen, Guangdong, P. R. China.
出版信息
Medicine (Baltimore). 2023 Apr 21;102(16):e33565. doi: 10.1097/MD.0000000000033565.
RATIONALE
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.
PATIENT CONCERNS
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.
DIAGNOSES
Gene test results indicated that there were duplication mutations in the exon 7 to 8 region of the SMN1 gene.
LESSONS
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.
发病机制
连枷臂综合征（flail arm syndrome，FAS）仅累及上肢早期，表现为双侧上肢近端无力和萎缩，腱反射减弱。作为肌萎缩侧索硬化症的良性变异型，FAS 进展缓慢，发病后 12 个月内下肢或延髓肌肉无下运动神经元体征。
病例介绍
一名 49 岁男性，因双侧上肢近端无力和肌肉萎缩 15 个月就诊，其他症状和体征不明显。
诊断
基因检测结果显示 SMN1 基因外显子 7 到 8 区域存在重复突变。
总结
该患者 SMN1 基因外显子 7 和 8 的异常重复可能会增加 FAS 的发病风险。需要进一步研究以确定导致男性易患 FAS 的显性基因和遗传因素。
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