News

A mutation in the periaxin (PRX) gene has been reported for the first time as the cause of Charcot-Marie-Tooth (CMT) type 4F in a Chinese patient. The report, “Novel mutation in the periaxin gene causal to Charcot-Marie-Tooth disease type 4F” was published in the Journal…

Even if not experiencing overt clinical signs, Charcot-Marie-Tooth Disease Type 1A (CMT1A) patients able to walk show respiratory muscle weakness associated with phrenic nerve damage, according to a new study. The findings in that study also revealed that having lower diaphragm strength and function is associated with more advanced…

Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people who’ve made it to adulthood. Neena Nizar doesn’t have to imagine. The 41-year-old English professor at Metro Community College in Elkhorn,…

Hearing aid trials are recommended for people with Charcot-Marie-Tooth disease (CMT), as hearing problems are variable in this patient population, a study reports. Patients showed particular difficulty in hearing high frequencies, and in understanding speech when there was a noisy background, the researchers reported. “[R]eferral to audiology for a…

Mice carrying a mutation identical to that producing an early-onset, severe form of Charcot-Marie-Tooth (CMT) disease fed with a neutral lipid-enriched diet showed improved myelinization (the growth of the protective layer myelin around nerve fibers) and less peripheral nerve damage, a study found. Such results indicate a potential benefit of…

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…