Autosomal recessive mutations in IGHMBP2 cause a broad clinical spectrum characterized by the degeneration of α-motor neurons and ganglion cells, ranging from distal muscle weakness with fatal respiratory distress/failure (SMARD1) to milder motor neuropathies with sensory neuropathies and lesser respiratory involvement (CMT2S) [9,10,11,12,13,14,15]. Here, IGHMBP2 is linked to Spinal muscular atrophy with respiratory distress type 1.