Type 0 Spinal Muscular Atrophy with Multisystem Involvement.
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Date
2014-11
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Abstract
Background: The classical forms of severe Spinal Muscular Atrophy type is well
recognized by pediatricians. Case Characteristics: A hypotonic neonate with severe
respiratory distress at birth. Observation: 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was withdrawn at the request of the parents.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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Keywords
Contracture, Exons 7 Survival Motor Neuron, Hypotonia, Neonate
Citation
Khera Sanjeev, Ghuliani Ranjit. Type 0 Spinal Muscular Atrophy with Multisystem Involvement. Indian Pediatrics. 2014 Nov; 51(11): 923-924.