Abstract: The clinical manifestations of spinal muscular atrophy with respiratory distress type 1（SMARD1）are diverse. This article is to summarize the clinical features and gene variation characteristics of a patient with SMARD1 caused by IGHMBP2 gene variation. It found that the most common clinical manifestations are respiratory failure caused by diaphragm paralysis，progressive diatal muscle weakness and autonomic nervous system involvement. The auxiliary examination is characterized by normal or slightly moderate serum creatine kinase levels，chest X-ray characteristic diaphragmatic bulging，electromyogram and muscle biopsy indicated neurological damage. The reported pathogenic variations of IGHMBP2 are mainly minor mutations，the most common types are missense and nonsense mutations. For children with distal muscle weakness and obvious diaphragm involvement，it is necessary to consider the possibility of SMARD1 and improve IGHMBP2 gene analysis to help patients with diagnosis and prenatal diagnosis.

Key words: spinal muscular atrophy with respiratory distress type 1, diaphragmatic palsy, immunoglobulin μ-binding protein 2 gene, gene mutation

摘要： 脊髓性肌萎缩伴呼吸窘迫1型（SMARDI）临床多累及神经系统、呼吸系统、骨骼和自主神经系统，常在生后3月龄内发病，以远端肢体进行性肌无力和早期出现膈肌麻痹导致的呼吸衰竭为主要特征，较早出现踝关节、手/足指（趾）关节挛缩，易合并自主神经受累。文章总结IGHMBP2变异致SMARD1患儿的临床表现以及基因变异特点并文献复习，提示最常见的临床表现是膈肌麻痹导致的呼吸衰竭，远端肢体进行性肌无力、肌萎缩、关节畸形和自主神经受累症状。血清肌酸激酶水平正常或轻中度升高，胸部X线可见特征性膈肌膨出，肌电图和肌肉病理显示神经源性损害。已报道的IGHMBP2致病性变异以微小变异为主，最常见的变异类型是错义变异和无义变异。发现IGHMBP2致病性变异有助于临床明确诊断及产前诊断。

关键词: 脊髓性肌萎缩伴呼吸窘迫1型, 膈肌麻痹, IGHMBP2基因, 基因变异