Joana Carvalho, PhD, managing science editor —

Defects in PMP22, the protein involved in Charcot-Marie-Tooth disease type 1A (CMT1A), might play a role in the loss of myelin — the fatty substance that protects nerve fibers — associated with multiple sclerosis (MS), according to a case report. The case report study, “A…

The foot function index may be a promising tool to capture the impact of foot impairments in patients with Charcot-Marie-Tooth disease type 1A (CMT1A), a study says. The findings of the study, “Foot Function Index: a promising questionnaire for patients with Charcot-Marie-Tooth disease type 1A,”…

A group of potential gene modifiers have been found that may explain the reason why patients with Charcot-Marie-Tooth disease type 1A (CMT1A) who share the same genetic mutation experience different symptoms at varying degrees of severity, a study reports. The study, “Modifier Gene Candidates in Charcot-Marie-Tooth…

Scientists discovered a new mutation in the GARS gene in the first reported cases of two African siblings with Charcot-Marie-Tooth disease type 2D (CMT2D). The case report study, “A novel mutation in the GARS gene in a Malian family with Charcot-Marie-Tooth disease,” was published in…

Two new mutations associated with a mild form of Charcot-Marie-Tooth disease type 4H (CMT4H) have been found in two Spanish siblings, scientists say. Their study, “A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4,” was published in the Journal…

Despite improving certain physical features, orthopedic foot surgery did not seem to improve strength, foot function, or overall quality of life in children with Charcot-Marie-Tooth disease (CMT), a small study suggests. However, the authors note, more study is needed in larger trials to fully determine the impact of…

The StepWatch Activity Monitor, unlike the 6-minute walk test, was able to detect progressive deterioration in patients with Charcot-Marie-Tooth disease (CMT) over the course of one year and may be a suitable measure of outcomes in clinical studies of potential treatments, a study reports. The study, “Are novel outcome…

The T118M variant of the PMP22 gene can cause painful peripheral neuropathy in people with Charcot-Marie-Tooth disease (CMT), a case report shows. The case study, “T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature,”…

An atypical case of an 11-year old boy diagnosed with Charcot-Marie-Tooth disease type 4C (CMT4C) associated with dropped head syndrome, a medical condition caused by severe spine deformities coupled with neck muscle weakness, was described in a recent study. The case report, “Dropped head syndrome as a manifestation…

French researchers described a combination of surgical techniques that allows the correction of foot deformities associated with Charcot-Marie-Tooth disease (CMT). The study, “Long term results of the revisited Meary closing wedge tarsectomy for the treatment of the fixed cavo-varus foot in adolescent with Charcot-Marie-Tooth disease,” was published in…