News

Charcot-Marie-Tooth disease type 1A (CMT1A) caused by a duplication in the DNA sequence of the PMP22 gene was the most common form of this disease found in a large group of patients in southern Italy, a study reports. This finding supports suggestions that disease-causing mutations in…

Central nervous system (CNS) dysfunction, manifesting as reversible posterior leukoencephalopathy , was observed in three people with X-linked Charcot-Marie-Tooth (CMTX) and described in a recent case report. The case report, “Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in…

Researchers have identified the first Portuguese family with Charcot-Marie-Tooth disease type 2E — caused by rare mutations in the NEFL gene — with family members showing different symptoms. The case report, “The first Portugese family with NEFL-related Charcot-Marie-Tooth type 2 disease,” was published in the journal…

A newly discovered mutation in the gene EGR2 causes a severe form of Charcot-Marie-Tooth disease type 3 (CMT3), according to a case report of a 56-year-old patient. The report, titled “A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy),” was…

With a $100,000 match pledge to CMT1A research, longtime Charcot-Marie-Tooth Association (CMTA) supporters Seth and Missy Warfield have issued a challenge to other members of the disease community. The pledge was in celebration of the nonprofit organization earning a prestigious four-star Charity Navigator rating. It’s the highest…

Charcot-Marie-Tooth disease (CMT) patients from southeast China have higher rates of intermediate CMT, and patients with CMT type 1A seem to have later age of onset, when compared with other patient populations, a study suggests. The study, titled “Genetic spectrum and clinical profiles in a…

With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…

Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s highest-ranking health official said. “We have to think about how our financing system can protect those with serious and rare illnesses.

I recently caught up with my friend, Estela Lugo, who is an inspiring professional and mom living in New York City as well as a thriver living with Charcot-Marie-Tooth (CMT) disease. It’s almost impossible to believe when talking to her, but in…

Two new mutations causing Charcot-Marie-Tooth disease type 1 (CMT1) were identified in the gene PMP2, and associated with variable clinical severity, including slow progression of disease and mild symptoms, according to a study. The study, “Peripheral myelin protein 2 – a novel…