Author Archives: Alice Melao

Micro RNA Variant Found that May Be Linked to CMT1A Outcomes

A specific mutation in a small RNA molecule called miR-149 was found to be linked to both age of onset and severity in patients with Charcot-Marie-Tooth disease type 1A (CMT1A), according to researchers. Their study, “Association of miR-149 polymorphism with onset age and severity in Charcot-Marie-Tooth disease…

Researchers Develop New Approach to ID Genetic Contributors for CMT

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…

Clinical Trial to Test New Tool for Assessing CMT’s Severity in Children

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…

Footwear Quality Affects Gait and Balance of CMT Children, Study Shows

Researchers have found that footwear that provides inadequate support to users negatively affects the gait and balance of children and adolescents with Charcot-Marie-Tooth (CMT) disease. CMT is characterized by progressive damage to peripheral nerve cells, particularly affecting the feet and ankles. Children with this disease often experience gait difficulties due…