Spinal muscular atrophy with respiratory distress type 1 (SMARD1, OMIM#604320) is a neuromuscular disorder resulting from the degeneration of alpha motor neurons in the anterior horn cells of the spinal cord in which severely impaired helicase and ATPase activities are the primary pathological mechanism of SMARD1 (1). Here, IGHMBP2 is linked to Spinal muscular atrophy with respiratory distress type 1.