News

Researchers have developed a new scale to assess disease severity in infants with Charcot-Marie-Tooth disease (CMT). The final version of the Charcot-Marie-Tooth disease Infant Scale (CMTInfS) is easy to use and very reliable to evaluate disease outcomes for early-onset CMT and other types of nerve disorders. The study supporting that assessment, “…

Investigational therapy ACE-083 was granted fast track designation for Charcot-Marie-Tooth disease (CMT) by the United States Food and Drug Administration, Acceleron Pharma recently announced. ACE-083 can prevent muscle shrinkage or atrophy that cause the debilitating symptoms of CMT disease by blocking the transforming growth…

Molecular simulations of the effects of specific mutations in the structure of mitofusin 2 (MFN2) — the key protein altered in Charcot-Marie-Tooth disease type 2A (CMT2A) — may predict the disease’s severity, a recent study shows. The study, “Molecular modelling of mitofusin 2 for a prediction for…

Patients with Charcot-Marie-Tooth disease (CMT) who undergo Fontan surgery to correct a heart defect in childhood may later develop difficulties with the diaphragm — the muscle that allows us to breath — that can cause the earlier heart surgery to fail while leaving…

Two scores that evaluate gait characteristics may help differentiate between those who have Charcot-Marie-Tooth (CMT) disease and those who are not affected, according to a study. The scores could also help evaluate the severity of the disease, the joints most affected, and the benefits provided by physiotherapy and…

With the U.S. midterm elections now less than two weeks away, patient advocacy groups are solidly focused on a range of hot-button issues, from the Orphan Drug Tax Credit and affordable health insurance to future funding for rare disease research. Yet “whether Democrats take over the House or Senate,…

 To help it reach its fundraising goal by year’s end, the Charcot-Marie-Tooth Association (CMTA) has issued its 35th Anniversary $150,000 Research Challenge. Donations will be matched dollar for dollar through Dec. 31, 2018. Fundraising totals are continually updated on the CMTA website.  Funds will go toward investigations…

Variants in the genes GJB1, MFN2 and MPZ are the predominant causes of Charcot-Marie-Tooth disease (CMT) across Japan, and the first decade of life is the most common onset period for CMT patients in the country, a large, nationwide study suggests. Researchers also…

To keep their balance while standing upright, children and adolescents with Charcot-Marie-Tooth (CMT) disease seem to adopt a more stiff posture and sway their bodies less than healthy individuals, researchers report. Their findings were published in the study, “Characterizing postural oscillation in children…

A newly launched international observational study is going to explore the overall impact of Charcot-Marie-Tooth disease (CMT) using a tailored app called CMT&Me. Designed by Vitaccess in collaboration with Pharnext, this new trial is expected to provide information on the disease’s medical, social, and economic impact, as…