Open AccessVery severe spinal muscular atrophy (Type 0)
Author(s) -
Suleiman Al Dakhoul
Publication year - 2017
Publication title -
avicenna journal of medicine
Language(s) - English
Resource type - Journals
eISSN - 2249-4464
pISSN - 2231-0770
DOI - 10.4103/2231-0770.197512
Subject(s) - spinal muscular atrophy , sma* , medicine , respiratory distress , exon , phenotype , atrophy , motor neuron , bioinformatics , pediatrics , pathology , physical medicine and rehabilitation , surgery , gene , genetics , disease , biology , mathematics , combinatorics
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.