Yedida Y Bogachkov PhD,  —

A Chinese male presenting with decreased sensation, muscle weakness, and myotonia — the inability to relax his muscles — was diagnosed with two unlinked genetic disorders, Charcot-Marie-Tooth disease type 1A (CMT1A) and nondystrophic myotonia, according to a case study. The same genetic conditions were identified in the individual’s father, although…

Two newly reported mutations in the MPZ gene resulted in Charcot-Marie-Tooth (CMT) disease type 1B in Chinese patients, according to a recent study. Taken together with previous cases, the findings further show the diversity of MPZ mutations in Chinese patients, the scientists said. The study, “Two Novel Myelin…

A Japanese man was found to have a new mutation in the PRPS1 gene, which caused Charcot-Marie-Tooth disease type X- 5 (CMTX5), according to a recent case study. The patient showed the classic symptoms of CMTX5, such as deafness and damage to multiple peripheral nerves — those outside the…

Two research projects focused on developing gene-editing therapies for Charcot-Marie-Tooth disease type 2 (CMT2) — both launched with seed monies from the Charcot-Marie-Tooth Association-Strategy to Accelerate Research (CMTA-STAR) program — have now been awarded additional funding from the National Institutes of Health (NIH). According to a CMTA press…

Nerve damage caused by mutations in the HINT1 gene are as common among Greek patients with Charcot-Marie-Tooth disease (CMT) or a related condition as they are among patients in more central and eastern European countries, a study found. Specifically, four reported cases of autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM),…

Children with Charcot-Marie-Tooth (CMT) disease are more likely to be on either extreme of the body mass index, either underweight or obese, than their healthy peers, a large study found. Findings also showed that among children with CMT, being underweight or obese was associated with greater disability. The study,…

A researcher from Belgium who is developing a new cell-based model for Charcot-Marie-Tooth (CMT) disease has been awarded nearly $99,000 to further her research. The grant from the Charcot-Marie-Tooth Association Strategy to Accelerate Research (CMTA-STAR) has been awarded to Esther Wolfs, PhD, at Hasselt University in Belgium, according…

A retrospective study by the National Institutes of Health (NIH) suggests that healthcare costs for those with rare diseases have been underestimated, possibly being three to five times higher than for those without rare diseases. This study provides evidence of the potential effect rare diseases may have on public health…

PXT3003, a potential treatment for Charcot–Marie–Tooth type 1A (CMT1A) being developed by Pharnext, showed “promising” results and good safety at high dose in a recently completed first Phase 3 clinical trial, researchers reported. The therapy was found to ease disabilities in those affected by the disease, based…