Journal of Pediatric Critical Care · Published 2025-11-01 · DOI 10.4103/jpcc.jpcc_69_25
Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1) is an uncommon autosomal recessive neuropathy resulting from IGHMBP2 mutations. It is characterized by early-onset diaphragmatic palsy, distal limb weakness, and autonomic dysfunction. We report a 5-month-old female with recurrent pneumonia and respiratory failure, ultimately diagnosed with SMARD1 postmortem. Notably, digital clubbing – a rarely reported feature in SMARD1 – was observed, expanding the clinical phenotype.
Abstract from DOAJ. Public domain (CC0 1.0).
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