News

Researchers identified a mutation in the GJB1 gene as the genetic cause of X-linked Charcot-Marie-Tooth (CMTX) disease in a large Chinese family. The study highlights the importance of electromyography (EMG) for family members who have no symptoms but may have disease-related muscle or nerve problems that would…

Some patients with Charcot-Marie-Tooth Disease type X (CMTX) exhibit cognitive deficits, such as difficulties with executive function and reading, a recent study shows. The study, “Evidence for Cognitive Deficits in X-Linked Charcot-Marie-Tooth Disease,” was published in the Journal of the International Neuropsychological Society. CMTX, also…

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…