Margarida Maia, PhD,  science writer—

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…

Thickening of the cauda equina — a bundle of nerves at the end of the spinal cord — was found for the first time in two siblings with a milder form of Charcot-Marie-Tooth disease type 4 subtype H (CMT4H), a case study reported. This finding warrants further investigation regarding…