Demographic characteristics of SMA type 1 patients at a tertiary center in Turkey.
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.


CONCLUSIONS
A national program is needed in Turkey for SMA prevention and creation of expert teams for the management of these patients.
Department of Pediatric Neurology, Istanbul Medical Faculty, Ortaköy Dereboyu cad. Arkeon sitesi A 5 blok D 3, Beşiktaş, Fatih, Istanbul, Turkey. ekicibaris@yahoo.com
Barış
B
Ekici
Betül
B
Bozkurt
Burak
B
Tatlı
Mine
M
Calışkan
Nur
N
Aydınlı
Meral
M
Ozmen
D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012189:Retrospective Studies; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics / Q000628:therapy; D014421:Turkey / Q000453:epidemiology