Margarida Maia, PhD, science writer —

The CMT Research Foundation is joining Jenny Decker, a nurse with Charcot-Marie-Tooth disease (CMT) who last summer set sail on a solo trip around the world to raise awareness about the disease. The trip, which Decker named Just A Lap, could take about three years. If she succeeds,…

Foot surgery may help reduce pain during walking and correct the way people with Charcot–Marie–Tooth disease (CMT) stand, a brief report by researchers in Italy suggests. While foot surgery may not address functional limitations like a slow gait and poor balance, it “allows [patients] to wear shoes, and leads…

Some mutant forms of neurofilament light (NF-L) linked to Charcot-Marie-Tooth disease (CMT) show abnormal glycosylation, a type of protein modification, which may compromise how they support nerve cells, a study in cells and post-mortem brain tissue suggests. NF-L in cerebrospinal fluid, the liquid that…

Many of the mutated proteins that cause the different forms of Charcot-Marie-Tooth disease type 2 (CMT2) tend to go to a point in nerve cells, or neurons, called stress granules. There, upon stress, they make unwanted interactions with a protein called G3BP, a study found. Breaking these interactions was…

The transmission of signals between the nerves and muscles is impaired in people with Charcot-Marie-Tooth (CMT) type 1 or 2, and the severity of this impairment appears to be related to the disease’s. That’s according to findings from ESTABLISH (NCT04980807), an observational study launched by NMD…

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…