Clinical and genetic study of spinal muscular atrophies in Oman

Roshan Koul, Amna Al Futaisi, Alexander Chacko, Vasudev Rao, Mehmet Simsek, Shanmugakonar Muralitharan, Shyam S. Ganguly, Riad Bayoumi

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6 Citations (Scopus)

Abstract

This article presents a retrospective study and a prospective study on spinal muscular atrophy in Oman. For the retrospective study, data were collected from neurophysiology records, from both inpatient and outpatient files. The prospective study was conducted on children as they presented to the hospital and was funded by Sultan Qaboos University. The patients of spinal muscular atrophy were classified into types I, II, and III based on their clinical features as per the International Spinal Muscular Atrophy Consortium classification. The incidence of spinal muscular atrophy was about 1 per 6000 live births. Spinal muscular atrophy type I formed 65% of the cases. Survival motor neuron deletion was seen in 70% of cases of all types of spinal muscular atrophy. The deletion was 83% in spinal muscular atrophy type I. A further study to look into the nondeletional cases is in progress.

Original languageEnglish
Pages (from-to)1227-1230
Number of pages4
JournalJournal of Child Neurology
Volume22
Issue number10
DOIs
Publication statusPublished - Oct 2007

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Keywords

  • Genetics
  • Spinal muscular atrophy

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

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