Published in February 2022, guidelines for the genetic diagnosis of Charcot-Marie-Tooth disease and hereditary distal motor (dHMN) and sensory (HSAN) neuropathies were developed by the Diagnostic tools – molecular genetics subcommittee of the French Rare Health Care for Neuromuscular Diseases Network (FILNEMUS).
They list :
- 81 genes involved in CMT (included 26 only suspected for the moment) ;
- 26 genes involved in dHMN;
- 17 genes involved in HSAN.
This panel of genes is a remarkable and unique tool for the diagnosis of these genetic neuropathies.
