title: Descriptive epidemiology of spinal muscular atrophy type I in Estonia.
abstract: Spinal muscular atrophy is the second most frequent autosomal-recessive disorder in Europeans. There are no published epidemiological data on SMA in Estonia and other Baltic countries. The aim of this study was to estimate the incidence of SMA I in Estonia. All patients with SMA I diagnosed between January 1994 and December 2003 were included in the study. The diagnosis was established on the basis of neurological evaluation, ENMG findings, molecular studies and muscle biopsy. PCR and restriction enzyme analysis was used to detect the homozygous deletion of the SMN1 gene. A total of 9 cases of SMA I were identified during this 10-year period. The incidence of SMA I in Estonia is 1 in 14,400 live births, which is similar to the result from Hungary but lower than average incidence in the world. Only one of the patients was female. Typical SMN1 gene deletion was found in all cases.
authors.affiliation: Department of Paediatrics, Tartu University, Tartu, Estonia.
authors.forename: Eve
authors.initials: E
authors.lastname: Vaidla
authors.forename: Inga
authors.initials: I
authors.lastname: Talvik
authors.forename: Andres
authors.initials: A
authors.lastname: Kulla
authors.forename: Tiina
authors.initials: T
authors.lastname: Kahre
authors.forename: Malle
authors.initials: M
authors.lastname: Hamarik
authors.forename: Aita
authors.initials: A
authors.lastname: Napa
authors.forename: Tuuli
authors.initials: T
authors.lastname: Metsvaht
authors.forename: Andres
authors.initials: A
authors.lastname: Piirsoo
authors.forename: Tiina
authors.initials: T
authors.lastname: Talvik
mesh_terms: D017362:Cyclic AMP Response Element-Binding Protein / Q000235:genetics; D004957:Estonia / Q000453:epidemiology; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics; D055532:SMN Complex Proteins; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D055533:Survival of Motor Neuron 1 Protein
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; C526471:SMN1 protein, human; D055533:Survival of Motor Neuron 1 Protein