News

Compared to regular footwear, customized orthopedic shoes significantly improve walking, including speed, in adults with Charcot-Marie-Tooth (CMT) disease, according to a small study in the Netherlands. However, no significant differences in postural stability while standing or walking were noted when patients wore orthopedic versus standard shoes. While orthopedic…

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,…

The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health systems to facilitate secure and efficient transfer of data across systems in different European nations. The move is expected to…

The National Organization for Rare Disorders (NORD) has updated its State Report Card to make it more digitally friendly and added telehealth to its categories of rare disease policy issues in a nod to its increased use during the ongoing COVID-19 pandemic. NORD’s report card project began seven…

It was an unexpected $1 million gift even for Kent and Michele Stahl. Austin Stahl, 28, and sister Hunter Stahl, 27, pose for a photo on a ski trip. (Photo courtesy of Hunter Stahl) The Charcot-Marie-Tooth Research Foundation (CMTRF) was hosting a research convention in September when it…

A 62-year-old woman was diagnosed with Charcot-Marie-Tooth (CMT) disease type 4J due to two alterations in the FIG4 gene — one of them a newly identified mutation — according to a case study. “The second mutation, c.2247dupC, p.Ser750GlnX10 is maternally inherited and not previously reported,” the researchers…

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…

People with Charcot-Marie-Tooth disease type 1A (CMT1A) have reduced quality of life, particularly in physical domains, a study from Serbia shows. Disease severity, depression, and fatigue are the main predictors of worse quality of life in this patient population. Given that there is still no treatment for this disease, managing…

A new MME gene mutation was discovered in three members of a large Iranian family diagnosed with Charcot-Marie-Tooth disease type 2 (CMT2), according to a recent case report. The report, “A nonsense mutation in MME gene associates with autosomal recessive late-onset…

Suppressing the activation of nerve macrophages — a type of immune cell involved in Charcot-Marie-Tooth (CMT) type 1 — from birth lessened nerve damage and partially preserved motor function in a mouse model of CMT type 1A (CMT1A), a study shows. These findings contrast with those previously reported for…