News

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…

Healthcare providers involved in diagnosing and treating rare diseases believe that increased physician education and collaboration with specialized facilities will have the greatest positive impact on treating these conditions over the next five years, according to results from a 2021 survey. Definitive Healthcare, a healthcare commercial intelligence company, conducted…

Neuropathic pain, related to damage or impairment in nerve receptors that detect pain and heat, is most common in CMT1A patients but can be found in people with different types of Charcot–Marie Tooth (CMT) disease, a study found. Abnormal electrical signals along nerve fibers in response to heat generated…

The CMT Research Foundation is teaming up with Alan Jackson’s “Last Call: One More for the Road Tour” to raise funds that will go toward discovering treatments for Charcot-Marie-Tooth disease (CMT). For every sold ticket, $1 will be donated to the CMT Research Foundation. A group of supporters…

Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric Sid, MD, program officer for the Office of Rare Diseases Research (ORDR), said it is difficult to estimate how…