Ana Pena, PhD,  —

A larger-than-normal version of myelin protein zero is associated with damage to myelin — the protective sheath covering nerve fibers — and may underlie the development of Charcot–Marie–Tooth (CMT) disease, a study in mice found. The study “Upregulation of large myelin protein zero leads to Charcot–Marie–Tooth disease-like…

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…

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…

Two new mutations causing Charcot-Marie-Tooth disease type 1 (CMT1) were identified in the gene PMP2, and associated with variable clinical severity, including slow progression of disease and mild symptoms, according to a study. The study, “Peripheral myelin protein 2 – a novel…

A gene therapy strategy to treat Charcot-Marie-Tooth disease 4 subtype C (CMT4C), targeted to correct the myelin-producing cells of the peripheral nervous system, showed positive results in a mouse model. The data provide proof-of-principle support for gene therapy to treat CMT4C and potentially other similar demyelinating inherited nerve diseases.

An imaging technique called 3D multiple gradient echo Dixon-based MRI may be a highly reliable and more sensitive tool for evaluating muscle degeneration in people with Charcot-Marie-Tooth (CMT) disease, a study reports.  This technology enables the mapping and quantification of the proportion of fat within…

Patients with Charcot-Marie-Tooth disease (CMT) who undergo Fontan surgery to correct a heart defect in childhood may later develop difficulties with the diaphragm — the muscle that allows us to breath — that can cause the earlier heart surgery to fail while leaving…

Variants in the genes GJB1, MFN2 and MPZ are the predominant causes of Charcot-Marie-Tooth disease (CMT) across Japan, and the first decade of life is the most common onset period for CMT patients in the country, a large, nationwide study suggests. Researchers also…

To keep their balance while standing upright, children and adolescents with Charcot-Marie-Tooth (CMT) disease seem to adopt a more stiff posture and sway their bodies less than healthy individuals, researchers report. Their findings were published in the study, “Characterizing postural oscillation in children…

Two brothers with X-linked Charcot-Marie-Tooth disease type 5 (CMTX5), who carried newly identified mutations in the PRPS1 gene, experienced temporary but recurrent symptoms of muscle weakness after taking ill with fever, a case study notes. According…