title: Type 0 spinal muscular atrophy with multisystem involvement.
abstract: BACKGROUND
  The classical forms of severe SMA type 0 is well recognised by Pediatricians.
  
  
  METHODS
  A hypotonic neonate with severe respiratory distress at birth.
  
  
  METHODS
  Homozygous absence of exons 7 of the Survival Motor Neuron I gene.
  
  
  RESULTS
  Died 108 days after admission when respiratory support was withdrawn at the request of the parents.
  
  
  CONCLUSIONS
  Spinal Muscular Atrophy should be kept in mind in the differential diagnosis for unexplained severe generalized hypotonia and severe respiratory distress immediately after birth in the neonates.
authors.affiliation: Department of Pediatrics, Military Hospital, Agra, Uttar Pradesh. Correspondence to: Dr Sanjeev Khera, Department of Pediatrics, Military Hospital Agra 282 001, Uttar Pradesh, India. kherakherakhera@gmail.com.
authors.forename: Sanjeev
authors.initials: S
authors.lastname: Khera
authors.forename: Ranjit
authors.initials: R
authors.lastname: Ghuliani
mesh_terms: D003286:Contracture; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009123:Muscle Hypotonia; D009134:Muscular Atrophy, Spinal; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics
chemical_list: D055533:Survival of Motor Neuron 1 Protein