Marisa Wexler, MS, senior science writer —

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…

In Charcot-Marie-Tooth disease (CMT), a type of support cell called Schwann cells help to repair nerve injury to limit the severity of the disease, a new study suggests. The finding suggests that therapies aiming to activate certain pathways in these cells may be beneficial in CMT and other peripheral…

The Charcot-Marie-Tooth Association (CMTA) has given a $225,483 award to support the development of treatments for Charcot-Marie-Tooth disease type 2E (CMT2E). The work is also being supported by the Muscular Dystrophy Association. The project will be led by Mario Saporta, MD, PhD, clinical neurologist and researcher at…

The CMT Research Foundation (CMTRF) is joining forces with Nanite, a biotechnology company, to work toward the development of new gene therapies for Charcot-Marie-Tooth disease (CMT). Nanite will use its artificial intelligence platform to design delivery vehicles that can get genetic medicines to certain cells in the…

Electrical stimulation reduced toxic PMP22 protein clumping and promoted myelin-making activity in a cell model of Charcot-Marie-Tooth disease type 1A (CMT1A), a new study reports. “We expect that the findings … will play a significant role in the potential clinical translation of an electroceutical [electricity-based] treatment for CMT1A disease,”…

A novel mutation in the GJB1 gene was found to cause X-linked Charcot-Marie-Tooth disease (CMT) in a new study. “Our results expand the spectrum of mutations in GJB1 known to be associated with [X-linked CMT] and contribute to the diagnosis of CMT and clinical genetic counseling,” the researchers wrote. The…

A standardized tool called the Charcot–Marie–Tooth Examination Score (CMTES) help track disease progression in people with Charcot-Marie-Tooth disease (CMT) caused by mutations in the myelin protein zero (MPZ) gene, a study reports. It may also be useful for tracking the effectiveness of potential treatments in future clinical trials, researchers…

Blocking the activity of a protein known as SARM1 — called an “executioner” by scientists — may be a useful strategy in Charcot-Marie-Tooth disease (CMT), according to a new study done in a rat model of CMT type 2A (CMT2A). According to researchers, such a strategy may prevent…

Weakness in the extremities, fatigue, and difficulty walking are typically the symptoms that affect people with Charcot–Marie–Tooth disease type 1A (CMT1A) the most, and many report substantial anxiety and/or depression, a study found. “These data demonstrate the high unmet medical need in CMT1A caused by the symptoms’ burden are…

The CMT Research Foundation (CMTRF) is teaming up with Oryzon Genomics to conduct preclinical testing of treatments that Oryzon is developing for Charcot-Marie-Tooth disease (CMT). “We are excited to collaborate with Oryzon on this important project,” Cleary Simpson, CEO of the foundation, said in a press…