title: [Infantile spinal atrophy: our experience in the last 25 years].
abstract: OBJECTIVE
  To determine the incidence of spinal muscular atrophy (SMA) in our study population and genetic distribution and epidemiological and clinical characteristics and to analyze the level of care and development.
  
  
  METHODS
  Retrospective descriptive study of patients treated in our hospital in the past 25 years (from 1987 to early 2013), with a clinical and neurophysiological diagnosis of SMA.
  
  
  RESULTS
  A total of 37 patients were found, representing an incidence for our reference population and year of 1 case per 10,000 live births. Males predominated (male/female ratio: 1.6/1). The type of SMA diagnosed more frequently was, type i (26 cases), followed by type ii (9 cases), one case with SMA type iii, and one case of spinal muscular atrophy with respiratory distress type 1 (SMARD1). The most frequent genetic alteration was homozygous deletion of exons 7 and 8 of SMN1 gene in 31 cases, while five patients had atypical genetics. The median survival for type i was 8.0 months and 15.8 years for type ii.
  
  
  CONCLUSIONS
  The incidence in our population remains stable at around 1/10.000. Most cases presented with, predominantly male, typical genetics. In approximately 1/10 patients the genetic alteration was different from the classical one to the SMN gene. The prevalence of AME unrelated SMN gene was 1/37. The level of care has increased in line with social and welfare demands in recent years.
authors.affiliation: Servicio de Pediatría, Hospital Materno Infantil, Hospital Regional Universitario de Málaga, Málaga, España. Electronic address: auroramadrid_2000@yahoo.es.
authors.forename: A
authors.initials: A
authors.lastname: Madrid Rodríguez
authors.affiliation: Servicio de Pediatría, Hospital Materno Infantil, Hospital Regional Universitario de Málaga, Málaga, España.
authors.forename: P L
authors.initials: PL
authors.lastname: Martínez Martínez
authors.affiliation: Servicio de Pediatría, Hospital Materno Infantil, Hospital Regional Universitario de Málaga, Málaga, España.
authors.forename: J M
authors.initials: JM
authors.lastname: Ramos Fernández
authors.affiliation: Servicio de Pediatría, Hospital Materno Infantil, Hospital Regional Universitario de Málaga, Málaga, España.
authors.forename: A
authors.initials: A
authors.lastname: Urda Cardona
authors.affiliation: Servicio de Pediatría, Hospital Materno Infantil, Hospital Regional Universitario de Málaga, Málaga, España.
authors.forename: J
authors.initials: J
authors.lastname: Martínez Antón
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D009154:Mutation; D012127:Respiratory Distress Syndrome, Newborn / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D012189:Retrospective Studies; D013030:Spain; D013997:Time Factors; D055815:Young Adult
keywords: Atrofia espinal infantil; Atrofia muscular espinal; Atrofia muscular espinal con distrés respiratorio; Spinal muscular atrophy; Spinal muscular atrophy with respiratory distress type 1