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Journal of Child Neurology, Vol. 22, No. 10, 1227-1230 (2007)
DOI: 10.1177/0883073807306268

Clinical and Genetic Study of Spinal Muscular Atrophies in Oman

Roshan Koul, MD, DM, FRCPCH, FAAN

Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University Hospital, Muscat, Oman, rkoul{at}omantel.net.om

Amna Al Futaisi, MD, FRCPC

Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University Hospital, Muscat, Oman

Alexander Chacko, MD, FRCP

Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University Hospital, Muscat, Oman

Vasudev Rao, MD

Department of Pathology, College of Medicine and Health Sciences, Sultan Qaboos University Hospital, Muscat, Oman

Mehmet Simsek, PhD

Department of Biochemistry College of Medicine and Health Sciences, Sultan Qaboos University Hospital, Muscat, Oman

Shanmugakonar Muralitharan, MSc, MPhil

Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University Hospital, Muscat, Oman

Shyam S. Ganguly, PhD

Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University Hospital, Muscat, Oman

Riad Bayoumi, FRCPath, PhD

Department of Biochemistry College of Medicine and Health Sciences, Sultan Qaboos University Hospital, Muscat, Oman

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.

Key Words: spinal muscular atrophy • genetics


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