Point-of-care lung and diaphragm ultrasound in a patient with spinal muscular atrophy with respiratory distress type 1

Abstract

Spinal muscular atrophy with respiratory distress type 1 (SMARD1, OMIM #604,320), is a rare autosomal recessive disease resulting from degeneration of motor neurons in the anterior horns, which leads irreversible diaphragmatic palsy and progressive distal symmetrical muscular weakness. Respiratory distress is the main symptom and is severe, rapidly progressive, and frequently requiring invasive ventilation. Despite diaphragm being one of the target organ of the disease, no specific study has been done using ultrasound.We report diaphragm and lung ultrasound findings of a 13-month-old girl affected by SMARD1 (homozygosis c.1540G > A mutation in IGHMPB2 gene) with respiratory failure requiring permanent mechanical ventilation since birth and we discuss the role of diaphragmatic and lung ultrasound in this category of patients and its clinical implications.

Keywords: Diaphragm; Diaphragm function; Diaphragm ultrasound; JUSD-D-21–00,057; Lung ultrasound; Neuromuscular disorders; Personalized medicine; Precision medicine; SMARD1; Spinal muscular atrophy; Ultrasound.