News

Inhibition of a tumor suppressor enzyme called MST1 could reverse the effects of the genetic mutations that cause Charcot-Marie-Tooth disease type 4J (CMT4J), researchers show in a fruit fly study. The study, “Loss-of-function mutation in Hippo suppressed enlargement of lysosomes and neurodegeneration caused by dFIG4 knockdown,”…

Researchers in France have found that a new technique to assess muscle electrical activity, called Motor Unit Number Index (MUNIX), correlates with clinical disability in Charcot-Marie-Tooth disease type 1 (CMT1) and can be used to monitor disease progression. The study, “Motor unit number index correlates with disability in Charcot-Marie-Tooth disease,”…

Researchers at University of Michigan developed a new method that can help identify potential targets relevant for normal peripheral nerve activity and Charcot-Marie-Tooth (CMT) disease therapy development. Based on genetic analysis of non-coding regions in genes coupled with experimental cell line testing, the new method revealed the Tubb2b gene as an…

People with disabilities, such as those with Charcot-Marie-Tooth (CMT) disease, are striving to perform work-related activities, such as engaging in job preparation, searching for jobs, having a job, and looking and working for more hours, according to a recent study. These people are also overcoming barriers to employment, like…

Individuals with Charcot-Marie-Tooth disease type 2 (CMT2) have lower muscle strength compared to those who don’t have CMT2. This loss of muscle strengths leads to decreased balance and inability to perform normal tasks. A study with those findings, “Evaluation of muscle strength, balance and functionality of individuals with…

At least 800 people representing some 45 countries are soon expected to gather in Austria’s capital city, Vienna, for ECRD 2018, the 9th European Conference on Rare Diseases and Orphan Products. The May 10-12 meeting is sponsored by Eurordis, the Paris-based group that defines itself as a “patient-driven alliance”…

Researchers found that small molecules which target the key protein altered in patients with Charcot-Marie-Tooth disease type 2A (CMT2A) may be a viable therapeutic approach and also improve other diseases with impaired mitochondrial health. The study, “MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-Tooth disease type 2A,”…

Damage in the nerves that control involuntary body functions — known as autonomic nerve damage — is highly prevalent and has a significant impact on Charcot-Marie-Tooth disease (CMT) patients, a new study shows. The research, “Dysautonomia in Charcot-Marie-Tooth Disease and Correlations with Patient-Reported Disability (P2.112),” will be presented…

Researchers found that a neuropathy-based scale may help predict the need for mobility assistance in children with Charcot-Marie-Tooth disease. The results will be presented April 23 at the 2018 American Academy of Neurology (ANN) Annual Meeting, April 21-27 in Los Angeles in the session dedicated to Child Neurology…

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…