News

The amount of fat in leg and thigh muscles measured on magnetic resonance imaging (MRI) scans correlates with disease severity and disability in people with Charcot-Marie-Tooth (CMT) type 1A, a small study suggests. The researchers said the amounts of fat could be a useful biomarker for determining the effects…

Foot drop in Charcot-Marie-Tooth disease may be corrected by transferring the end part of specific leg muscles to the midfoot region, researchers report. The study, titled “Extensor Tendon Transfers for Treatment of Foot Drop in Charcot-Marie-Tooth Disease: A Biomechanical Evaluation,” was published in Foot &…

Allison Moore remembers how doctors advised her to be careful and avoid physical activity after diagnosing her with Charcot-Marie-Tooth (CMT) disease 30 years ago.  The organization Moore founded as a result of her diagnosis, the Hereditary Neuropathy Foundation…

Pharnext’s oral experimental treatment PXT3003 was found to be safe and effective for patients with Charcot-Marie-Tooth type 1A (CMT1A), improving clinical outcomes and stabilizing disease progression over the course of two years of treatment, according to data from a Phase 3 trial and its open-label extension study.

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…