Because the first two seipinopathy-related mutations, BSCL2 p.N88S and p.S90L, were originally identified in patients with dHMN or Silver syndrome [2,3], seipinopathy is commonly recognized as a spectrum of motor neuron disorders presenting with variable combination of upper and lower motor neuron signs. This evidence concerns the gene BSCL2 and distal hereditary motor neuropathy.