脊髓性肌萎缩伴呼吸窘迫1型(SMARD1),也称为远端脊髓性肌萎缩症1(DSMA1)或远端遗传性运动神经病6型(DHMN6),是一种罕见的常染色体隐性运动神经元障碍,影响婴儿,以膈肌麻痹为特征,远端肌肉无力和肌肉萎缩。该疾病是由编码免疫球蛋白结合蛋白2(IGHMBP2)的基因突变引起的。我们提出了一个在IGHMBP2基因c.344C>T(p.115T>M)和c.1737C>A(p.579F>L)中具有新型复合杂合突变的女性儿童,显示远端四肢无力和萎缩,没有膈肌麻痹或呼吸功能不全的迹象。我们回顾了20例报告的SMARD1病例,这些病例没有呼吸道受累或发作较晚。我们认为IGHMBP2基因突变的特征是显著的表型异质性。可能没有膈肌麻痹和呼吸窘迫,在周围神经病发作的婴儿中应考虑SMARD1。
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.