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CASE REPORT
Year : 2017  |  Volume : 7  |  Issue : 1  |  Page : 32-33

Very severe spinal muscular atrophy (Type 0)


Department Neonatal Unit, Leeds Teaching Hospitals NHS Trust, Children's Hospital, United Kingdom

Correspondence Address:
Suleiman Al Dakhoul
Flat 1, 39 Yateholm Drive, Bradford, BD6 3WU
United Kingdom
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2231-0770.197512

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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.


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