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Heterogeneity in spinal muscular atrophy with respiratory distress type 1
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a clinically heterogeneous disorder linked to mutations in the immunoglobulin mu-binding protein 2 (IGHMBP2) gene on chromosome 11q13-q21. Most infants with SMARD1 present between six weeks and six months of age with respiratory di...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3611909/ https://www.ncbi.nlm.nih.gov/pubmed/23560007 http://dx.doi.org/10.4103/1817-1745.106478 |
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author | Majid, Aziz Talat, Khan Colin, Lumsden Caroline, Ross Helen, Kingston Christian, De Goede |
author_facet | Majid, Aziz Talat, Khan Colin, Lumsden Caroline, Ross Helen, Kingston Christian, De Goede |
author_sort | Majid, Aziz |
collection | PubMed |
description | Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a clinically heterogeneous disorder linked to mutations in the immunoglobulin mu-binding protein 2 (IGHMBP2) gene on chromosome 11q13-q21. Most infants with SMARD1 present between six weeks and six months of age with respiratory distress secondary to diaphragmatic weakness and progressive distal weakness. Sensory and autonomic dysfunctions sometimes accompany the motor weakness. This report describes a male infant with genetically confirmed SMARD1 presenting with onset of disease in the first two weeks of life with respiratory compromise and urinary retention, which has not been reported before and adds to the phenotypic variability of SMARD 1. |
format | Online Article Text |
id | pubmed-3611909 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-36119092013-04-04 Heterogeneity in spinal muscular atrophy with respiratory distress type 1 Majid, Aziz Talat, Khan Colin, Lumsden Caroline, Ross Helen, Kingston Christian, De Goede J Pediatr Neurosci Case Report Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a clinically heterogeneous disorder linked to mutations in the immunoglobulin mu-binding protein 2 (IGHMBP2) gene on chromosome 11q13-q21. Most infants with SMARD1 present between six weeks and six months of age with respiratory distress secondary to diaphragmatic weakness and progressive distal weakness. Sensory and autonomic dysfunctions sometimes accompany the motor weakness. This report describes a male infant with genetically confirmed SMARD1 presenting with onset of disease in the first two weeks of life with respiratory compromise and urinary retention, which has not been reported before and adds to the phenotypic variability of SMARD 1. Medknow Publications & Media Pvt Ltd 2012 /pmc/articles/PMC3611909/ /pubmed/23560007 http://dx.doi.org/10.4103/1817-1745.106478 Text en Copyright: © Journal of Pediatric Neurosciences http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Majid, Aziz Talat, Khan Colin, Lumsden Caroline, Ross Helen, Kingston Christian, De Goede Heterogeneity in spinal muscular atrophy with respiratory distress type 1 |
title | Heterogeneity in spinal muscular atrophy with respiratory distress type 1 |
title_full | Heterogeneity in spinal muscular atrophy with respiratory distress type 1 |
title_fullStr | Heterogeneity in spinal muscular atrophy with respiratory distress type 1 |
title_full_unstemmed | Heterogeneity in spinal muscular atrophy with respiratory distress type 1 |
title_short | Heterogeneity in spinal muscular atrophy with respiratory distress type 1 |
title_sort | heterogeneity in spinal muscular atrophy with respiratory distress type 1 |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3611909/ https://www.ncbi.nlm.nih.gov/pubmed/23560007 http://dx.doi.org/10.4103/1817-1745.106478 |
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