Very severe spinal muscular atrophy (Type 0)

This case report describes a rare phenotype of very severe spinal muscular atrophy (SMA) in a newborn who presented with reduced fetal movements in utero and significant respiratory distress at birth. The patient was homozygously deleted for exon 7 and exon 8 of the survival motor neuron gene 1. Ver...

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Autor principal:	Suleiman Al Dakhoul
Formato:	article
Lenguaje:	EN
Publicado:	Thieme Medical and Scientific Publishers Pvt. Ltd. 2017
Materias:	exon neurodegenerative newborn severe spinal muscular atrophy Medicine R
Acceso en línea:	https://doaj.org/article/38b1804ae8ca40e685703923b656ea11
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spelling	oai:doaj.org-article:38b1804ae8ca40e685703923b656ea112021-12-02T16:37:41ZVery severe spinal muscular atrophy (Type 0)2231-07702249-446410.4103/2231-0770.197512https://doaj.org/article/38b1804ae8ca40e685703923b656ea112017-01-01T00:00:00Zhttp://www.thieme-connect.de/DOI/DOI?10.4103/2231-0770.197512https://doaj.org/toc/2231-0770https://doaj.org/toc/2249-4464This case report describes a rare phenotype of very severe spinal muscular atrophy (SMA) in a newborn who presented with reduced fetal movements in utero and significant respiratory distress at birth. The patient was homozygously deleted for exon 7 and exon 8 of the survival motor neuron gene 1. Very severe SMA should be considered in the differential diagnosis of respiratory distress at birth, and more research should be dedicated to investigate the genetic determinants of its widely variable phenotypes.Suleiman Al DakhoulThieme Medical and Scientific Publishers Pvt. Ltd.articleexonneurodegenerativenewbornseverespinal muscular atrophyMedicineRENAvicenna Journal of Medicine, Vol 07, Iss 01, Pp 32-33 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	exon neurodegenerative newborn severe spinal muscular atrophy Medicine R
spellingShingle	exon neurodegenerative newborn severe spinal muscular atrophy Medicine R Suleiman Al Dakhoul Very severe spinal muscular atrophy (Type 0)
description	This case report describes a rare phenotype of very severe spinal muscular atrophy (SMA) in a newborn who presented with reduced fetal movements in utero and significant respiratory distress at birth. The patient was homozygously deleted for exon 7 and exon 8 of the survival motor neuron gene 1. Very severe SMA should be considered in the differential diagnosis of respiratory distress at birth, and more research should be dedicated to investigate the genetic determinants of its widely variable phenotypes.
format	article
author	Suleiman Al Dakhoul
author_facet	Suleiman Al Dakhoul
author_sort	Suleiman Al Dakhoul
title	Very severe spinal muscular atrophy (Type 0)
title_short	Very severe spinal muscular atrophy (Type 0)
title_full	Very severe spinal muscular atrophy (Type 0)
title_fullStr	Very severe spinal muscular atrophy (Type 0)
title_full_unstemmed	Very severe spinal muscular atrophy (Type 0)
title_sort	very severe spinal muscular atrophy (type 0)
publisher	Thieme Medical and Scientific Publishers Pvt. Ltd.
publishDate	2017
url	https://doaj.org/article/38b1804ae8ca40e685703923b656ea11
work_keys_str_mv	AT suleimanaldakhoul veryseverespinalmuscularatrophytype0
_version_	1718383625316073472

Very severe spinal muscular atrophy (Type 0)

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