Margarida Maia, PhD, science writer —

AT-007, an experimental treatment from Applied Therapeutics, was found to more than halve the levels of a sugar alcohol called sorbitol in people with SORD deficiency, a type of Charcot-Marie-Tooth disease (CMT) in which too much sorbitol causes nerve damage or neuropathy. Those findings come from a new…

Note: This story was updated Nov. 4, 2022, to clarify the organizations associated with this particular initiative. The Hereditary Neuropathy Foundation (HNF) has relaunched its Global Registry for Inherited Neuropathies (GRIN), a database of people with Charcot–Marie–Tooth (CMT) disease or other inherited nerve damage disorders that’s now…

Repeated damage to nerve cells, also called neurons, may explain in part why symptoms appear to develop slowly in patients with a form of Charcot-Marie-Tooth disease type 2 (CMT2) called CMT2P, a study in a mouse model suggests. Researchers suggested this to explain why neurons in mice carrying a…

IFB-088, a small molecule that modulates a cell’s response to stress, improved myelin formation in mouse models of Charcot-Marie-Tooth type 1 (CMT1) disease, and this translated into faster nerve signal transmission and better motor function, a study found. If the findings hold true in humans, they could lead to…

A new genetic mutation was identified in an Italian woman with severe muscle wasting in the arms and legs due to Charcot-Marie-Tooth disease type 2 (CMT2). The finding is part of a study that described the clinical characteristics of 13 patients carrying disease-causing mutations in MFN2, a gene that…

A low dose of a molecule known as RGFP966 boosted myelin production and improved electrical impulse conduction in nerves of a mouse model of Charcot-Marie-Tooth disease type 1 subtype A (CMT1A), a study found. RGFP966 is a selective inhibitor (blocker) of histone deacetylase 3 (HDAC3), a protein that stops myelination,…

Some patients with Charcot-Marie-Tooth (CMT) disease may experience mild to moderate muscle weakness in the lower limbs as a first symptom that begins during adulthood and is maintained over the course of the disease, an Italian study found. Researchers observed that the findings were linked to mutations in two…

The number of people in the U.K. known to have Charcot-Marie-Tooth disease (CMT) or another neuromuscular disease (NMD) rose by 63% between 2000 and 2019, a study involving almost 13 million people found. Researchers also observed that while lifetime prevalence — the part of a population given a diagnosis at…

Farnesol, a component of essential oils of various plants, increased the amount of myelin — a fatty layer that covers and protects nerves — made by lab-grown cells and in a mouse model of Charcot-Marie-Tooth disease type 1 subtype A (CMT1A), a study found. Researchers also observed that farnesol…

Clinical indices measuring disease severity and the need for walking assistance may help patients with Charcot-Marie-Tooth (CMT) disease in deciding on the type of orthosis required to provide added support for weakened muscles, a study found. Both the Ambulation Index (AI) and the Charcot-Marie-Tooth Neuropathy Score (CMTNS) “can be effective…