Abstract
The aim of this study was to demonstrate demographics of 39 consecutive Spinal Muscular Atrophy (SMA) type 1 patients diagnosed genetically in a tertiary center between June 2006 and June 2009. There was history of consanguineous marriage in 27 (69%) patients. The average patient lifespan was 251 days (30–726 days). The average patient age at diagnosis was 129 days (33–297 days). A statistically significant correlation was found between the age at diagnosis and the lifespan (p = 0.00). No significant correlation was found between the time spent in intensive care and the lifespan (p = 0.43). Routine physical therapy was found to have no significant impact on the lifespan average (p = 0.17). The cause of death in all of our patients was respiratory issues. Genetic counseling was given to 35 families. A second child with SMA was born in three out of the 14 families who declined prenatal diagnosis. Conclusion: A national program is needed in Turkey for SMA prevention and creation of expert teams for the management of these patients.
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Ekici, B., Bozkurt, B., Tatlı, B. et al. Demographic characteristics of SMA type 1 patients at a tertiary center in Turkey. Eur J Pediatr 171, 549–552 (2012). https://doi.org/10.1007/s00431-011-1607-2
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DOI: https://doi.org/10.1007/s00431-011-1607-2