Very severe spinal muscular atrophy: Type 0 with Dandy-Walker variant

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle weakness and paralysis. In addition to the three classical SMA types, a new form known as type 0 with intrau...

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Autores principales: Gathwala, Geeta, Silayach, Joginder, Bhakhari, Bhanu Kiran, Narwal, Varun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4040036/
https://www.ncbi.nlm.nih.gov/pubmed/24891907
http://dx.doi.org/10.4103/1817-1745.131488
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author Gathwala, Geeta
Silayach, Joginder
Bhakhari, Bhanu Kiran
Narwal, Varun
author_facet Gathwala, Geeta
Silayach, Joginder
Bhakhari, Bhanu Kiran
Narwal, Varun
author_sort Gathwala, Geeta
collection PubMed
description Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle weakness and paralysis. In addition to the three classical SMA types, a new form known as type 0 with intrauterine onset, profound hypotonia and a progressive and early fatal course has been described. Herein we report a case of type 0 SMA with a Dandy Walker variant anomaly, which has not hitherto been reported in the world literature.
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spelling pubmed-40400362014-06-02 Very severe spinal muscular atrophy: Type 0 with Dandy-Walker variant Gathwala, Geeta Silayach, Joginder Bhakhari, Bhanu Kiran Narwal, Varun J Pediatr Neurosci Case Report Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle weakness and paralysis. In addition to the three classical SMA types, a new form known as type 0 with intrauterine onset, profound hypotonia and a progressive and early fatal course has been described. Herein we report a case of type 0 SMA with a Dandy Walker variant anomaly, which has not hitherto been reported in the world literature. Medknow Publications & Media Pvt Ltd 2014 /pmc/articles/PMC4040036/ /pubmed/24891907 http://dx.doi.org/10.4103/1817-1745.131488 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
Gathwala, Geeta
Silayach, Joginder
Bhakhari, Bhanu Kiran
Narwal, Varun
Very severe spinal muscular atrophy: Type 0 with Dandy-Walker variant
title Very severe spinal muscular atrophy: Type 0 with Dandy-Walker variant
title_full Very severe spinal muscular atrophy: Type 0 with Dandy-Walker variant
title_fullStr Very severe spinal muscular atrophy: Type 0 with Dandy-Walker variant
title_full_unstemmed Very severe spinal muscular atrophy: Type 0 with Dandy-Walker variant
title_short Very severe spinal muscular atrophy: Type 0 with Dandy-Walker variant
title_sort very severe spinal muscular atrophy: type 0 with dandy-walker variant
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4040036/
https://www.ncbi.nlm.nih.gov/pubmed/24891907
http://dx.doi.org/10.4103/1817-1745.131488
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