A 52-year-old man was diagnosed with Charcot-Marie-Tooth disease type 1 subtype A (CMT1A), after presenting a history of muscle weakness in his legs, foot deformities, and walking impairments. The report illustrates how identifying relatives with similar symptoms may lead to an earlier referral in subsequent CMT cases in the…

People with Charcot-Marie-Tooth disease (CMT) type 2 are likely to experience inefficient sleep with more time spent awake after going to bed, according to a new study. “We can conclude that sleep in Charcot-Marie-Tooth disease is impaired, specifically for those with type 2 of the disease, which is evidenced…

A 12-year-old boy with Charcot-Marie-Tooth type 1 (CMT1) was found in a rare case study to carry variants in two different genes, MPZ and MFN2. The variant in MPZ has been previously described and was deemed likely the main cause of CMT in the patient, while the MFN2 variant…

The proteins NCAM1 and GDF15 are present at higher-than-normal levels in the blood of people with Charcot-Marie-Tooth disease (CMT), and in mouse models of the disease, a new study indicates. Scientists think these proteins may be useful biomarkers across types of CMT. The study, “NCAM1 and…

Charcot-Marie-Tooth disease (CMT) patients from southeast China have higher rates of intermediate CMT, and patients with CMT type 1A seem to have later age of onset, when compared with other patient populations, a study suggests. The study, titled “Genetic spectrum and clinical profiles in a…

Acceleron’s therapy candidate ACE-083 was seen to improve total and contractile muscle volume in patients with Charcot-Marie-Tooth (CMT) disease in preliminary results from a Phase 2 trial. The study is still recruiting patients. The positive data was presented by Acceleron at this year’s…

The Inherited Neuropathies Consortium will conduct a clinical trial of a tool that researchers developed to assess the severity of children’s Charcot-Marie-Tooth Disease. Scientists say the assessment tool used in adults — the Charcot-Marie-Tooth neuropathy score, or CMTNS — is a reliable way of determining the severity of their disease. It…

The online community GeneFo will hold a free webinar this month to provide those living with Charcot-Marie-Tooth (CMT) disease with updated insights into exercise and physical therapy strategies to help manage symptoms. The event, titled “Exercise and Physical Therapy Strategies for CMT Symptoms,” will be held March 29…