Spinal muscular atrophy with respiratory distress type 1


  • Clinicians should consider the genetic study of immunoglobin µ-binding protein 2 (IGHMBP2) in cases of distal deformities in a premature newborn with symmetrical intrauterine growth restriction (IUGR) and respiratory warning signs.

Why this matters

  • A more thorough understanding of the natural history of Spinal Muscular Atrophy with Respiratory Distress type 1 (SMARD1) is required for the ongoing development of innovative therapeutics and to help deduce prognostic factors to better inform clinical decisions.