The Current State of Charcot–Marie–Tooth Disease Treatment

Charcot–Marie–Tooth disease (CMT) and associated neuropathies are the most predominant genetically transmitted neuromuscular conditions; however, effective pharmacological treatments have not established. The extensive genetic heterogeneity of CMT, which impacts peripheral nerves causes lifelong disability, presents a significant barrier to development comprehensive treatments. An estimated 100 loci within human genome linked various forms CMT its related inherited neuropathies. This review delves into prospective therapeutic strategies used for frequently encountered variants, namely CMT1A, CMT1B, CMTX1, CMT2A. Compounds such as PXT3003, being clinically preclinically investigated, broad array agents their corresponding mechanisms discussed. Furthermore, progress in established gene therapy techniques, including replacement via viral vectors, exon skipping using antisense oligonucleotides, splicing modification, knockdown, appraised. Each these therapies has potential substantial advancements future research.