Background: The classical forms of severe SMA type 0 is well recognised by Pediatricians.
Case Characteristics: A hypotonic neonate with severe respiratory distress at birth.
Observations: Homozygous absence of exons 7 of the Survival Motor Neuron I gene.
Outcome: Died 108 days after admission when respiratory support was withdrawn at the request of the parents.
Message: 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.
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