A man with a rare case of diabetes complicating Charcot-Marie-Tooth disease (CMT) had a recurrent foot ulcer that originally was misdiagnosed as diabetic foot. That finding in a case report describes how the overlap in symptoms from the two conditions can be challenging, and how treating the ulcer with…
News
Mild sensory neuropathy was found in a group of Charcot-Marie-Tooth disease type 1 subtype B (CMT1B) patients with myelin protein zero (MPZ) gene mutations that cause insufficient levels of MPZ protein, a study shows. These results are in line with those…
In a mouse model of Charcot-Marie-Tooth disease type 4J (CMT4J), gene therapy administered in the first few days of life significantly prolonged survival and eased motor and nerve defects. The study with that finding, “…
A form of gene therapy that reduces levels of the PMP22 protein prevented the development of Charcot-Marie-Tooth disease 1A (CMT1A) features in a rat model, a study has found. The study, “AAV2/9-mediated silencing of PMP22 prevents…
Three people from two unrelated families were found to have Charcot-Marie-Tooth disease type 2Z (CMT2Z) caused by the same MORC2 mutation, called p.Ala406Val, which was linked to severe neuropathy, a case study reported. One patient’s condition also worsened following treatment with vinblastine…
Scientists have pinpointed a new genetic mutation in the PMP22 gene as the cause of Charcot-Marie-Tooth disease type 3 (CMT3) in a 26-year-old Chinese man. Titled “A novel PMP22 insertion mutation causing Charcot–Marie–Tooth disease type 3,” the case report was published in the journal Medicine. The…
A single dose of a gene therapy delivering a working copy of GJB1 — the gene mutated in X-linked Charcot-Marie-Tooth type 1 disease (CMTX1) — to myelin-producing cells prevented or even reversed myelin loss and motor function impairment in a mouse model of CMTX1. Notably, these benefits were observed…
Children and teenagers with Charcot-Marie-Tooth (CMT) disease have until May 15 to sign up for this year’s edition of Camp Footprint, which will be held virtually from Aug. 2 to 6. …
High-dose PXT3003, an investigational therapy for Charcot-Marie-Tooth disease type 1A (CMT1A), continues to show long-term safety and efficacy, according to an early analysis of a Phase 3 extension study. All participants showed improvements on the Overall Neuropathy Limitation Scale (ONLS), a measure of physical disability. “These new results…
Corrective foot surgery lessened pain and improved foot alignment and quality of life in patients with Charcot-Marie-Tooth (CMT) disease, according to data collected over four years. The findings were published in an article, “A prospective study on surgical management of foot deformities in charcot marie tooth…
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