Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1): Are We Diagnosing Yet?

The spectrum of disorders associated with the IGHMBP2 (immunoglobulin μ-binding protein 2) gene pathogenic variants is still unknown. We discuss here an interesting case of genetically confirmed spinal muscular atrophy with respiratory distress type 1 (SMARD1) with atypical sparing of the diaphragm, thus expanding the phenotypic spectrum of this intriguing disorder and also highlight the importance of reconsidering the selection criteria for considering IGHMBP2 pathogenic variants.