Marisa Wexler, MS,  senior science writer—

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.

The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases.  “The RareLaunch program is…

Functional surgery can improve walking ability in people with Charcot-Marie-Tooth disease (CMT), and patients are generally satisfied with the outcomes, a study indicates. The study, “Long‐term walking ability and patient satisfaction after lower limb functional surgery in patients affected by charcot‐marie‐tooth disease: A retrospective study,” was published…

A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…

Using bioinformatics — computer-based analyses of biological data — scientists discovered 30 new genes that might be involved in Charcot-Marie-Tooth disease (CMT). Their findings also provide new insights into the biological processes and gene interactions at play in CMT, further expanding the current knowledge and understanding of the…

This October, in observance of Charcot-Marie-Tooth disease (CMT) awareness month in Europe, the CMT&Me study is launching an international competition aimed at informing people about this group of inherited disorders, and raising funds for research, according to a press release. The competition only requires that patients in…

CKD-504, a new compound that works to block the protein HDAC6, was found to restore myelination in cell and mouse models of Charcot-Marie-Tooth disease type 1A (CMT1A) in an early study. Results indicate that CKD-504 – and, more broadly, the strategy of inhibiting HDAC6 – might be…

Mutations in the DST gene that affect the normal functioning of nerve fibers can cause Charcot-Marie-Tooth disease (CMT) type 2, a new study shows. This gene has not previously been implicated in CMT, the researchers said. The study, “Isoform-specific loss of dystonin causes…

The three components of the investigational therapy PXT3003 are all essential to significantly improve features of Charcot-Marie-Tooth disease (CMT) type 1A in cell and animal models, a new study suggests. The findings also indicate that PXT3003 could improve muscle biology in CMT1A by improving the connections between muscles…

A new protocol allows researchers to generate spinal motor neurons derived from Charcot-Marie-Tooth disease (CMT) patients, creating useful models for better understanding the disease and investigating responses to potential therapies. The protocol was described in “Optimized Protocol to Generate Spinal Motor Neuron Cells from Induced Pluripotent Stem…