News

Defects in PMP22, the protein involved in Charcot-Marie-Tooth disease type 1A (CMT1A), might play a role in the loss of myelin — the fatty substance that protects nerve fibers — associated with multiple sclerosis (MS), according to a case report. The case report study, “A…

Two boys with neurological deficits suggestive of acute ischemic stroke were ultimately diagnosed with Charcot-Marie-Tooth disease type X (CMTX) following the detection of white matter lesions characteristic with the disorder, a recent case report shows. The study, “X-linked Charcot-Marie-Tooth Disease Presenting with Stuttering Stroke-like Symptoms,”…

Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…

Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage girls, and has the nation’s third-highest rate of uninsured residents — with 13.9% of all Oklahomans lacking health coverage. As if…

Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neuropathies, affecting an estimated 150,000 Americans. But very few people outside the CMT community have ever heard of the illness. Estela Lugo says that’s partly because of its funny name. “No one knows what it is, and because the…

The first patient has been enrolled in what’s regarded as the first natural history study of Charcot-Marie-Tooth disease type 4 (CMT4J), with the ultimate goal of one day developing a gene therapy for the disease, announced the study’s collaborators, Neurogene and UT Southwestern Medical Center. The study’s…

A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…

The foot function index may be a promising tool to capture the impact of foot impairments in patients with Charcot-Marie-Tooth disease type 1A (CMT1A), a study says. The findings of the study, “Foot Function Index: a promising questionnaire for patients with Charcot-Marie-Tooth disease type 1A,”…

New findings suggest that Schwann cells are able to make the protective layer myelin for multiple nerve cells. This discovery goes against conventional wisdom about how Schwann cells work, and it could have major implications for our understanding of peripheral neurodegenerative diseases, including Charcot-Marie-Tooth disease (CMT). The study with that…

Some $10 million in National Institute of Neurological Disorders and Stroke (NINDS) grants aimed at accelerating clinical trials in rare neurological disorders will support a Charcot-Marie-Tooth (CMT) disease biomarkers project. Funding comes from NINDS’ Clinical Trial Readiness for Rare Neurological and Neuromuscular Diseases program, established to back investigations…