Spinal Muscular Atrophy in southern Iran

Introduction: Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The population carrier risk for SMA is assumed to be 1 in 20. Approximately 4% of normal chromosomes carry two copies of the SMN1 gene, and approximately 2% of SMN1 mutation are not deletions or gene conversations involving exons 7 and 8Materials & Methods: Quantitative Analysis was performed by Real time PCR and Multiple Ligation Dependent Probe Amplification (MLPA) for exons 7 and 8 in SMN1 gene.Results: In this case series, we reported the clinical features and discuss diagnosis in 11 subjects suspected to SMA. Therefore, 4 cases with one copy of exons 7 and 8 in SMN1 gene were confirmed as carrier for SMN1 gene.Conclusion & discussion: Genetic counselling and Prenatal diagnosis is recommended for future pregnancy

کلیدواژه ها:

Spinal Muscular Atrophy ، SMN1 gene ، SMA