title: Clinical and genetic study of spinal muscular atrophies in Oman.
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.
authors.affiliation: Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University Hospital, Alkhoud, Muscat, Oman. rkoul@omantel.net.om
authors.forename: Roshan
authors.initials: R
authors.lastname: Koul
authors.forename: Amna
authors.initials: A
authors.lastname: Al Futaisi
authors.forename: Alexander
authors.initials: A
authors.lastname: Chacko
authors.forename: Vasudev
authors.initials: V
authors.lastname: Rao
authors.forename: Mehmet
authors.initials: M
authors.lastname: Simsek
authors.forename: Shanmugakonar
authors.initials: S
authors.lastname: Muralitharan
authors.forename: Shyam S
authors.initials: SS
authors.lastname: Ganguly
authors.forename: Riad
authors.initials: R
authors.lastname: Bayoumi
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D017362:Cyclic AMP Response Element-Binding Protein / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D015994:Incidence; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D009850:Oman / Q000453:epidemiology; D011446:Prospective Studies; D016601:RNA-Binding Proteins / Q000235:genetics; D012189:Retrospective Studies; D055532:SMN Complex Proteins; D014897:Spinal Muscular Atrophies of Childhood / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology*
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins