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Updated: Aug 19, 2026

Functional and Morphological Assessment of Diaphragm Innervation by Phrenic Motor Neurons
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Published on: May 25, 2015

Atypical infantile spinomuscular atrophy presenting as acute diaphragmatic paralysis

K E Bove1, S T Iannaccone

  • 1Department of Pathology, Children's Hospital Medical Center, Cincinnati, Ohio 45229.

Pediatric Pathology
|January 1, 1988
PubMed

Insights

Severe diaphragmatic dysfunction in infants with spinal muscular atrophy (SMA) indicates a distinct Werdnig-Hoffmann disease variant. Early neuronal dysfunction and poor prognosis highlight the need for specific diagnostic approaches.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Spinal muscular atrophy (SMA) is a severe genetic neuromuscular disorder.
  • Werdnig-Hoffmann disease is a common form of SMA, typically presenting in infancy.
  • Diaphragmatic dysfunction is a critical complication in SMA, affecting respiratory function.

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