کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6041437 | 1189289 | 2014 | 12 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Early infantile sensory-motor neuropathy with late onset respiratory distress
ترجمه فارسی عنوان
نوروپاتی حسی-حرکتی اولیه نوزاد مبتلا به دیررس تنفسی دیررس
دانلود مقاله + سفارش ترجمه
دانلود مقاله ISI انگلیسی
رایگان برای ایرانیان
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
چکیده انگلیسی
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 3Â years. Autonomic system involvement with neurogenic bladder and urine retention were found at 3Â years. 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.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 24, Issue 3, March 2014, Pages 269-271
Journal: Neuromuscular Disorders - Volume 24, Issue 3, March 2014, Pages 269-271
نویسندگان
Astrid Blaschek, Dieter Gläser, Marius Kuhn, Andreas Sebastian Schroeder, Cornelius Wimmer, Bernd Heimkes, Carola Schön, Wolfgang Müller-Felber,