A Case of Charcot-Marie-Tooth Disease Type 2O (CMT2O) Associated with DYNC1H1 and SLC12A6 Mutations

Abstract

Charcot-Marie-Tooth disease (CMT) comprises of a variety of hereditary diseases affecting the peripheral nervous system. CMT2 is a subgroup caused by defects in the axon of the peripheral nerve cells. CMT2O is an uncommon type that affects less than one in a million people and is linked to specific genetic abnormalities. We report a case study of a 66-year-old individual with CMT2O, diagnosed on clinical presentation and identified through genetic analysis. Electromyography and nerve conduction studies supported the diagnosis of an axonal sensorineural neuropathy. A comprehensive genetic neuropathies panel led to the identification of mutations in SLC12A6 and DYNC1H1 gene. This case adds to our growing understanding of CMT2O and paves the path for new therapeutic options targeting specific genetic abnormalities, providing hope for improved patient management approaches in the future.