Neuromuscular manifestations associated with variants of PCH1-related genes may clinically present as amyotrophic lateral sclerosis (ALS), motor neuropathy (HMN) or neuronopathy (non-5q spinal muscular atrophy; SMA) or sensorimotor polyneuropathy (HMSN) [1]. This evidence concerns the gene VRK1 and spinal muscular atrophy.