News

Japanese researchers have identified five new mutations of the SH3TC2 gene that are involved in the development of Charcot-Marie-Tooth type 4 (CMT4). Their findings, in a study titled “Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2,” appeared in the Journal of Human…

Duke University biomedical engineers created fully functional human muscle from stem cells for the first time, according to a new study. This landmark advancement opens up new avenues for the treatment of conditions related to muscle degeneration, such as Charcot-Marie-Tooth disease. The study, “…

Exercising with an anti-gravity treadmill may help patients with Charcot-Marie-Tooth (CMT) disease improve their balance and ability to walk, new research suggests. The study, “Aerobic anti‐gravity exercise in patients with Charcot-Marie-Tooth disease types 1A and X: A pilot study,” appeared in the journal Brain and Behavior. Even though…

Mutations on the sequence of the SACS gene can lead to sensorimotor impairment similar to that observed in patients with Charcot-Marie-Tooth disease (CMT), researchers contend in a case report study published at Muscular Disorders. More than 20 genes have been associated with the development of different forms of CMT.

Falls and near falls are frequent in Charcot-Marie-Tooth disease patients and are the consequence of muscle and joint weakness, according to a patient self-reported questionnaire study. The report “Frequency and circumstances of falls for people with Charcot–Marie–Tooth disease: A cross sectional survey” was published in the journal Physiotherapy Research…

Diagnosis of Charcot-Marie-Tooth disease and other neuropathies is essential to prevent severe, life-threatening complications that may arise from the use of chemotherapy drugs, a study published in the journal Acta Oncologica highlights. Some compounds that are commonly used to fight cancers can induce chemotherapy-induced peripheral neuropathy (CIPN). This is…

The proteins NME3 and CSNK1G3 can help increase production of proteins lacking in genetic diseases with an underlying nonsense mutation – such as Charcot-Marie-Tooth type 2 disease – leading to a reduction in symptoms, a new study shows. The study “Aminoglycoside-mediated promotion of translation readthrough occurs through a non-stochastic…

Korean researchers have conducted a comprehensive analysis of the genetic and clinical features of GJB1 gene mutations in patients with X-linked Charcot-Marie-Tooth type 1 (CMTX1). The results of the study were published in the Journal of the Peripheral Nervous System. More than 400 mutations in the GJB1 gene have been…

The heartwarming story of students from three Massachusetts high schools banding together to help raise money to find a cure for the extremely rare neuropathy Charcot Marie Tooth, Type 4J (CMT4J) was featured in the Boston Globe recently. Students from Hamilton-Wenham, Ipswich, and Danvers high schools…

Researchers have linked a mutation on the MFN2 gene to mild, late-onset development of Charcot–Marie–Tooth disease type 2A (CMT2A). Two cases of adult-onset CMT2A were reported in a study, “Charcot–Marie–Tooth disease type 2A with an autosomal recessive inheritance: the first report of an adult-onset disease” that…