Although CMT is known as a disease associated with peripheral neuropathy, MORC2 mutations cause clinical symptoms such as severe axonal polyneuropathy, spinal muscular atrophy, cerebellar ataxia, diaphragmatic paralysis, craniofacial dysmorphism and nocturnal hypoventilation (Guillen Sacoto et al., 2020; Schottmann et al., 2016; Zanni et al., 2017). The gene discussed is MORC2; the disease is proximal spinal muscular atrophy.