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Functional and Morphological Assessment of Diaphragm Innervation by Phrenic Motor Neurons
Published on: May 25, 2015
Early diaphragmatic paralysis. In infants with genetic disorders
1Division of Pediatric Intensive Care, Children's Hospital of Los Angeles, University of Southern California School of Medicine.
Insights
Genetic diseases like spinal muscular atrophy and acid maltase deficiency can cause early diaphragmatic paralysis in infants, leading to respiratory failure and ventilator dependence. This highlights the need to consider neuromuscular disorders in such cases.
Area of Science:
- Pediatrics
- Genetics
- Neurology
Background:
- Genetic diseases can lead to severe respiratory complications in infants.
- Diaphragmatic paralysis is a critical cause of respiratory failure.
Abstract:
Three infants with recently diagnosed genetic diseases presented with respiratory failure and required assisted ventilation. One infant had spinal muscular atrophy (Werdnig-Hoffmann disease), and two had acid maltase deficiency. The cause of the respiratory failure in all was diaphragmatic paralysis, and they became ventilator dependent. Early diaphragmatic paralysis must be considered as a manifestation of genetic neuromuscular disorders.
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