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CC BY-NC-ND 4.0 · Avicenna J Med 2017; 07(01): 32-33
DOI: 10.4103/2231-0770.197512
CASE REPORT

Very severe spinal muscular atrophy (Type 0)

Suleiman Al Dakhoul
Department Neonatal Unit, Leeds Teaching Hospitals NHS Trust, Children′s Hospital, U.K
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Abstract

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.

Keywords

Exon - neurodegenerative - newborn - severe - spinal muscular atrophy


Publikationsverlauf

Artikel online veröffentlicht:
09. August 2021

© 2017. Syrian American Medical Society. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).

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