Luan Xinghua, Huang Xiaojun, Liu Xiaoli, Zhou Haiyan, Chen Shengdi, Cao Li
Department of Neurology and Institute of Neurology, Ruijin Hospital Affiliated to Shanghai JiaoTong University School of Medicine, Shanghai, China.
Department of Neurology and Institute of Neurology, Ruijin Hospital North Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Brain Dev. 2016 Aug;38(7):685-9. doi: 10.1016/j.braindev.2016.02.001. Epub 2016 Feb 24.
Spinal muscular atrophy with respiratory distress type 1 (SMARD1), also known as distal spinal muscular atrophy 1 (DSMA1) or distal hereditary motor neuropathies type 6 (dHMN6), is a rare autosomal recessive motor neuron disorder that affects infants and is characterized by diaphragmatic palsy, distal muscular weakness and muscle atrophy. The disease is caused by mutations in the gene encoding immunoglobulinm-binding protein 2 (IGHMBP2). We present a female child with novel compound heterozygous mutations in IGHMBP2 gene c.344C>T (p.115T>M) and c.1737C>A (p.579F>L), displaying distal limbs weakness and atrophy without signs of diaphragmatic palsy or respiratory insufficiency. We review 20 reported SMARD1 cases that have no respiratory involvement or have late onsets. We propose that IGHMBP2 gene mutations are characterized by significant phenotypic heterogeneity. Diaphragmatic palsy and respiratory distress may be absent and SMARD1 should be considered in infantile with the onset of peripheral neuropathies.
1型伴有呼吸窘迫的脊髓性肌萎缩症（SMARD1），也称为1型远端脊髓性肌萎缩症（DSMA1）或6型远端遗传性运动神经病（dHMN6），是一种罕见的常染色体隐性运动神经元疾病，影响婴儿，其特征为膈肌麻痹、远端肌肉无力和肌肉萎缩。该疾病由编码免疫球蛋白结合蛋白2（IGHMBP2）的基因突变引起。我们报告了一名女童，其IGHMBP2基因存在新的复合杂合突变，即c.344C>T（p.115T>M）和c.1737C>A（p.579F>L），表现为远端肢体无力和萎缩，但无膈肌麻痹或呼吸功能不全的迹象。我们回顾了20例已报道的无呼吸受累或发病较晚的SMARD1病例。我们提出IGHMBP2基因突变具有显著的表型异质性。可能不存在膈肌麻痹和呼吸窘迫，对于出现周围神经病的婴儿应考虑SMARD1。
