Deficiency in copper, a key factor in several cellular functions, may play a role in Charcot-Marie-Tooth (CMT) disease, say researchers at the University of Iowa’s Carver College of Medicine. Their study, “SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency,” appeared in the journal Brain.
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…
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…
Researchers identified a novel mutation responsible for a rare form of Charcot-Marie-Tooth disease in a 13-year-old Chinese patient. The case report, “A novel homozygous nonsense mutation in NEFL causes autosomal recessive Charcot-Marie-Tooth disease,” appeared in the journal Neuromuscular Disorders. Mutations (errors) in the gene coding for the…
Placing the patient and family members at the center of research and drug development in the rare disease field is a necessity, experts say, but one that often falls short in practice. The opinion piece,“Measuring what matters to rare disease patients – reflections on the work by the IRDiRC…
Researchers report what may be the first case of Charcot-Marie-Tooth (CMT) type 1 neuropathy being diagnosed in a 55-year-old patient after she was given standard care for advanced breast cancer. Doctors later found the woman had a family history of CMT, and the scientists speculate that the neuropathy was triggered…
Being overweight does not worsen nerve function in people with Charcot–Marie–Tooth Disease type 1A (CMT1A), but it may lead to more pain and less muscle strength in lower extremities, a study reports. Researchers published the study in the Journal of Clinical Neurophysiology. Its title is “Charcot–Marie–Tooth Disease Type 1A: Influence of Body…
Eight genes in the skin of patients with Charcot-Marie-Tooth disease correlated with the severity and progression of the disorder, a study reports. The research, which applied to Charcot-Marie-Tooth disease type 1a (CMT1a), suggested that the genes could be used as biomarkers of treatments’ effectiveness, including in clinical trials. Titled “Biomarkers predict outcome in Charcot- Marie-Tooth disease 1A,” the study…
An amendment in the protocol of two ongoing Phase 3 studies – the PLEO-CMT and PLEO-CMT-FU – testing the investigational drug PXT3003 in adults with Charcot-Marie-Tooth disease type 1A (CMT1A) was introduced to address stability issues with the drug’s highest dose arm, Pharnext announced. In the PLEO-CMT study (NCT02579759),…
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