News

Defects in a gene responsible for Charcot-Marie-Tooth type 2B (CMT2B) appear to interfere with a process in cells called autophagy, a mechanism for the elimination of cellular waste. These findings suggest that normalizing autophagy in CMT2B patients may have therapeutic benefits. The study, titled “Alterations of autophagy in the…

Researchers have found that low levels of ceramide, a lipid molecule, leads to changes in mitochondrial structure and function, resulting in the neuronal degeneration seen in CMT2F, a form of Charcot-Marie-Tooth (CMT) disease. The study titled, “Decreased ceramide underlies mitochondrial dysfunction in Charcot-Marie-Tooth 2F,” was published in the…

Evaluating the body composition — its total lean body mass — of patients with Charcot-Marie-Tooth (CMT) disease can help determine disease progression, researchers report, with muscle mass in the legs of particular importance. The study “Body composition and its association with physical performance, quality of life, and clinical…

Researchers report finding a more than four-fold increase in the prevalence of Charcot-Marie-Tooth disease in Denmark between 1988 and 2012, possibly because of better disease diagnosis. They also report significantly higher mortality rates among CMT patients compared to the general public than is thought to exist. Conducted by a team at…

Placing the patient and family members at the center of research and drug development in the rare disease field is a necessity, experts say, but one that often falls short in practice. The opinion piece,“Measuring what matters to rare disease patients – reflections on the work by the IRDiRC…

Researchers report what may be the first case of Charcot-Marie-Tooth (CMT) type 1 neuropathy being diagnosed in a 55-year-old patient after she was given standard care for advanced breast cancer. Doctors later found the woman had a family history of CMT, and the scientists speculate that the neuropathy was triggered…

Children’s National Health System no longer treats just kids. Its Rare Disease Institute, launched in April 2017, has partnered with the National Organization for Rare Disorders (NORD) to become the first of many U.S. “centers of excellence” to look after patients with rare diseases, regardless of age. The effort…

X-linked Charcot-Marie-Tooth disease (CMTX1) affects men and women differently, finds a large-scale study promoted by the Inherited Neuropathies Consortium. The study. “Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1),” appeared in the journal Neurology. CMT is an inherited genetic disease that affects the…

Being overweight does not worsen nerve function in people with Charcot–Marie–Tooth Disease type 1A (CMT1A), but it may lead to more pain and less muscle strength in lower extremities, a study reports. Researchers published the study in the Journal of Clinical Neurophysiology. Its title is “Charcot–Marie–Tooth Disease Type 1A: Influence of Body…

Researchers have found that disease progression in Charcot-Marie-Tooth type 1A (CMT1A) patients reaches a critical point at age 50, after which clinical decline occurs faster. In response, patients should be encouraged to engage in a healthy and active lifestyle in order to preserve their function, a new study…