While our patient’s central nervous system involvement and musculoskeletal anomalies deviate from the classical manifestations of PMP22-related disorders, the coexistence of the homozygous HERC1 variant and the heterozygous PMP22 duplication raises intriguing questions regarding potential synergistic or modifying effects contributing to the observed phenotype such as scoliosis. This evidence concerns the gene PMP22 and scoliosis.