Department of Paediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Germany.
Genetikum, Neu-Ulm, Germany.
Neuromuscul Disord. 2014 Mar;24(3):269-71. doi: 10.1016/j.nmd.2013.11.013. Epub 2013 Dec 1.
Children with spinal muscular atrophy with respiratory distress (SMARD1) usually present within their first year of life, with respiratory failure due to diaphragmatic paralysis and progressive distal limb weakness. We present a child with a confirmed compound heterozygous IGHMBP2 mutation c.[676G>T];[2083A>T] in whom severe sensory-motor neuropathy preceded diaphragmatic paralysis by almost 3years. Autonomic system involvement with neurogenic bladder and urine retention were found at 3years. In summary, our patient highlights the broad spectrum of phenotypes observed in SMARD1. Currently, no prediction of phenotype according to genotype is possible, suggesting that yet unknown factors cause the observed phenotypic variation. Even in the absence of obvious diaphragmatic weakness, SMARD1 should be considered in severe infantile onset neuropathies. High throughput techniques, such as next generation sequencing, will possibly offer a useful approach in the heterogeneous group of inherited neuropathies.
患有呼吸窘迫型脊髓性肌萎缩症（SMARD1）的儿童通常在出生后的第一年就会出现症状，由于膈肌麻痹和进行性远端肢体无力导致呼吸衰竭。我们报告了一例经证实的 IGHMBP2 复合杂合突变 c.[676G>T];[2083A>T] 的患儿，其严重的感觉运动神经病在膈肌麻痹前几乎提前了 3 年出现。3 岁时发现自主神经系统受累，伴有神经性膀胱和尿潴留。总之，我们的患者突出了 SMARD1 中观察到的广泛表型。目前，根据基因型预测表型是不可能的，这表明存在未知的因素导致了观察到的表型变异。即使没有明显的膈肌无力，在严重的婴儿期起病的神经病中也应考虑 SMARD1。高通量技术，如下一代测序，可能为遗传性神经病这一异质性群体提供有用的方法。
