PDF(Pubmed)
Abstract：
A rare autosomal recessive genetic disease is spinal muscular atrophy with respiratory distress type 1 (SMARD 1; OMIM #604320), which is characterized by progressive distal limb muscle weakness, muscular atrophy, and early onset of respiratory failure. Herein, we report the case of a 4-month-old female infant with SMARD type 1 who was admitted to our hospital owing to unexplained distal limb muscle weakness and early respiratory failure. This report summarizes the characteristics of SMARD type 1 caused by heterozygous variation in the immunoglobulin mu DNA binding protein 2 (IGHMBP2) gene by analyzing its clinical manifestations, genetic variation characteristics, and related examinations, aiming to deepen clinicians\' understanding of the disease, assisting pediatricians in providing medical information to parents and improving the decision-making process involved in establishing life support.
摘要：
一种罕见的常染色体隐性遗传病是脊髓性肌萎缩伴呼吸窘迫1型（SMARD1；OMIM#604320），其特征是进行性远端肢体肌肉无力，肌肉萎缩,和早期发作的呼吸衰竭。在这里，我们报道了一例4个月大SMARD1型女婴,因不明原因的远端肢体肌无力和早期呼吸衰竭入院.本报告通过分析其临床表现，总结了由免疫球蛋白muDNA结合蛋白2（IGHMBP2）基因杂合变异引起的SMARD1型的特点，遗传变异特征，和相关的考试，旨在加深临床医生对这种疾病的理解，协助儿科医生向父母提供医疗信息，并改善建立生命支持的决策过程。
