A team of U.S. researchers is calling for routine screening for hip dysplasia — when the bones in the hip joint don’t fit together correctly, causing instability — among children with Charcot-Marie-Tooth disease (CMT), after their work revealed it to be a common but underrecognized problem in young people…
The CMT Research Foundation (CMTRF) has raised more than its $10 million goal for the Endgame campaign to support research toward treatments for Charcot-Marie-Tooth disease type 1A (CMT1A). The foundation announced the results at the annual Global CMT Research Convention, which took place Sept. 26-28 in…
For Charcot-Marie-Tooth (CMT) disease Awareness Month this September, supporters are taking to social media to put a spotlight on the relatively unknown neuromuscular disease. CMT is a group of diseases affecting the network of nerves throughout the body that are involved in sensation and movement. It is one of…
Cochlear implants are a safe and reliable way to improve hearing, speech, and quality of life for people with Charcot-Marie-Tooth disease (CMT), according to a case series. This study provides “more evidence supporting the potential benefit of cochlear implantation among CMT patients,” researchers wrote. “The present analysis is also…
EN001, a stem cell therapy being developed by Encell, was found to safely ease symptoms of Charcot-Marie-Tooth disease type 1A (CMT1A) in early clinical testing. That’s according to the results of a Phase 1 trial (NCT05333406) involving nine adults with a genetically confirmed diagnosis of CMT1A.
Duplication of the PMP22 gene, the underlying cause of Charcot-Marie-Tooth disease type 1A (CMT1A), disrupts the development of Schwann cells essential to the myelin sheath that protects nerve cells, a study in mouse models and cells derived from patients reports. Specifically, the gene’s duplication dysregulates fat-like lipid metabolism, storage,…
The Hereditary Neuropathy Foundation (HNF) will present a patient-centered Charcot-Marie-Tooth disease (CMT) summit June 7-8 that will address clinical trial readiness. The event will happen at the Loews Coronado Bay Resort, San Diego, and a limited number of discounted rooms are available. Tickets are $200 for patients and…
The CMT Research Foundation is joining Jenny Decker, a nurse with Charcot-Marie-Tooth disease (CMT) who last summer set sail on a solo trip around the world to raise awareness about the disease. The trip, which Decker named Just A Lap, could take about three years. If she succeeds,…
Foot surgery may help reduce pain during walking and correct the way people with Charcot–Marie–Tooth disease (CMT) stand, a brief report by researchers in Italy suggests. While foot surgery may not address functional limitations like a slow gait and poor balance, it “allows [patients] to wear shoes, and leads…
Some mutant forms of neurofilament light (NF-L) linked to Charcot-Marie-Tooth disease (CMT) show abnormal glycosylation, a type of protein modification, which may compromise how they support nerve cells, a study in cells and post-mortem brain tissue suggests. NF-L in cerebrospinal fluid, the liquid that…
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