To study the prevalence of SMA carriers in representative sample of Saudi volunteers (university, college, military college students and hospital employees).
Spinal Muscular Atrophy (SMA), an autosomal recessive inherited disease, is the leading genetic killer under the age of two years and results in the gradual demise of muscle mass due to loss of motor neurons in the spinal cord. Other forms of SMA cause lifelong disability among patients. This disease is caused by mutation in the telomeric copy of the survival motor neuron gene  (SMN1). Most carriers of SMA have one chromosome with a normal SMN1 gene and one deleted SMN1 gene. As a recessive disorder the SMA patient must inherit a defective copy of SMN1 of each parent.  One in 50 - 80 individuals are carriers of SMA. Although no large scale population-based studies has been done in Saudi Arabia, previous reports have indicated that incidence of SMA is 20 times higher in Saudi population compared with other ethnic groups, partly because of high degree of consanguineous marriages. In light of this observation, it is essential to develop a method for screening carriers in Saudi population. We have developed a highly sensitive quantitative-PCR method for SMA carrier analysis.  The pilot study from our laboratory has demonstrated 92% sensitivity and 96% specificity.  This project is designed to further analyze the carrier status of SMA in Saudi population. This will clarify the magnitude of the problem of SMA in Saudi population and ascertain whether or not the pre-marital testing of an individual is of value. It is hoped that the results of this study will provide data of immense clinical, epidemiological and academic interest and the findings will also be of great practical value for preventing this fatal disease.

Dr. Ibrahim Al-Abdulkareem, Dr. Ramanath Mujamdar, Dr.Saad Al-Rajeh, Dr. Wafaa Eyaid

The project is resulted in three manuscripts and two journal publications. The final scientific report was approved by Prince Salman Center for Disability Research (PSCDR) Research Committee and by external reviewers.

King Abdulaziz Medical City - National Guard Health Affairs

1. R. Majumdar, Z. Rehana, M. Al-Jumah and N. Fetaini. Spinal Muscular Atrophy Carrier Screening by Multiplex Polymerase Chain Reaction using Dried Blood Spot on Filter Paper. Annals of Human Genetics (2005) 69, 1-6.2. Spinal muscular atrophy: population-based carrier screening by quantitive-PCR method, Journal of Neurology, Volume 252, Supplement 2, June 2005. 3. Spinal muscular atrophy: population-based carrier screening by quantitive-PCR method using isocode stix paper, Myologie 2005, May 9 – 13. Presentations  :1. M. Al.Juma, A. Abdulkareem, S. Al rajeh, W. Al-Eyaid, Z. Rehana, N. Fetaini, A. Al-Shagawi.   Population-based carrier screening of spinal muscular atrophy in Saudi population Abstract of the XVIIIth World Congress of Neurology 11 November 2005, Sydney Australia, Volume 238, Suppl. 1

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