News

Treating a woman with Charcot-Marie-Tooth disease type 2 (CMT2) with an anti-inflammatory compound isolated from green tea led to increased muscle mass, improved motor skills, and reduced body fat and inflammatory markers, a case study reports. The study, “…

Mutations in a mitochondrial gene that does not code for a protein have been implicated, for the first time, in the development of Charcot-Marie-Tooth (CMT) disease. These gene mutations were found in a large, indigenous Venezuelan family with more than 3,700 living members, nearly 100 of…

The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…

The Hereditary Neuropathy Foundation (HNF) has launched a new virtual fitness platform to promote the practice of safe physical activity among patients with Charcot-Marie-Tooth (CMT) disease. The “Movement is Medicine” Fitness Ambassador program will enable members of HNF’s Movement is Medicine initiative to have access to weekly live…

Researchers are investigating whether treatments for other disorders might benefit people with a newly identified type of Charcot-Marie-Tooth disease (CMT) that may be a common recessive form of hereditary neuropathy. They are inviting people diagnosed with CMT but with no clear disease-causing mutation to help by joining a registry…

Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for Rare Disorders (NORD)’s Rare Caregiver Respite Program may be a helpful resource. The program seeks to give a…

Blood plasma levels of the protein neurofilament light chain (NfL) are elevated in Charcot-Marie-Tooth disease (CMT) patients and correlate somewhat with disease severity, a recent study reports. These findings suggest that the protein may serve as a clinical biomarker for identifying CMT and tracking disease progression,…

A mouse model of dominant-intermediate Charcot-Marie-Tooth (CMT) disease type B displays motor symptoms that are caused mostly by muscle damage, rather than peripheral nerve cell damage, a study found. While the lack of nerve cell damage contrasts with findings in humans with…

Charcot-Marie-Tooth disease (CMT) does not significantly affect the outcomes of pregnancies but a pregnancy can cause CMT symptoms to worsen, according to a study in Italy, which also recommends that expectant mothers with CMT be carefully monitored. While outcomes such as miscarriage and newborn health were similar between women…

A never-before-reported mutation in the gene MFN2 was found to cause a severe form of Charcot-Marie-Tooth disease (CMT). Scientists in Japan described the case in “An MFN2-related Charcot-Marie-Tooth Disease Patient with Optic Nerve Atrophy, Neurogenic Bladder Dysfunction, and Diaphragmatic Weakness,” published in the journal Internal Medicine.