Retrospective Study of One Case of Spinal Muscular Atrophy with Respiratory Distress Type 1
Retrospective Study of One Case of Spinal Muscular Atrophy with Respiratory Distress Type 1
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发表时间：
2015
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通讯作者：
Mai Jia-hu
中科院分区：
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作者：
Mai Jia-hu
目的：报告中国首例1型脊髓性肌萎缩伴呼吸窘迫（SMARD1）病例，并探讨SMARD1的诊断策略。方法：回顾性分析SMARD1患者的病史、体格检查、临床检查及基因分析结果，并复习相关文献。结果：患者1个月大时因髋关节发育不良进行支架正畸治疗，随后发展为肌无力，肢体远端更为明显，且主要累及腿部。2岁时出现膝关节和肘关节挛缩。4岁10个月时发生呼吸衰竭。除肌酸激酶和转氨酶轻度升高外，其血液检查及SMN基因的基因分析无异常。肌电图显示神经源性损害。胸部X线报告右侧膈肌膨出。IGHMBP2基因测序发现c.1813C>T纯合突变，确诊为SMARD1。结论：SMARD1是脊髓性肌萎缩的变异类型之一，表现为不可逆的膈肌麻痹、6周龄至6个月龄之间出现呼吸衰竭，以及进行性对称性肌无力和肌萎缩。目前，基因分析是主要的诊断方法。
Aim To report the first case of spinal muscular atrophy with respiratory distress type 1(SMARD1) in China and discuss the diagnosis strategy of SMARD1. Methods The history, physical examination, clinical exams and genetic analysis results of the patient with SMARD1 were retrospectively analyzed, and the related literatures were reviewed. Results At 1 month old, the patient had scaffold orthodontic treatment because of the hip dysplasia, then developed into muscle weakness, more evident in the distal parts and predominantly in the legs. At the age of 2 years old, she developed contractures of the knees and elbows. Respiratory failure happened at the age of 4 years and 10 months. Her blood tests and genetic analysis of SMN gene were not remarkable except for the slightly increased of creatine kinase and the aminotransferases. The EMG revealed neurogenic damages. Her chest X-ray reported eventration of the right diaphragm. IGHMBP2 gene sequencing identified homozygous mutation of c.1813 CT. The diagnosis of SMARD1 was conformed. Conclusion SMARD1 is one of the variation types of spinal muscular atrophy, which manifested as irreversible diaphragmatic paralysis, respiratory failure between 6 weeks and 6 months of age, as well as progressive symmetrical muscular weakness and muscle atrophy. Nowadays, genetic analysis is the principal method for diagnosis.