Author Archives: Marta Figueiredo PhD

Double HSPB1 Mutations Linked to CMT2F in Two Patients

Researchers identified double disease-causing HSPB1 mutations in two unrelated adults with Charcot-Marie-Tooth disease type 2 subtype F (CMT2F), according to a case report. While mutations in the HSPB1 gene have been associated with CMT2F, they are usually found in only one of the gene’s copies, in which case it’s…

Foundation Supports Promising Preclinical Work in CMT

The Hereditary Neuropathy Foundation is supporting preclinical work focused on mutations in the CNTNAP1 gene, which were linked previously to symptoms of Charcot-Marie-Tooth (CMT) disease, it announced in a press release. CMT is part of a large group of disorders called neuropathies, which are diseases characterized by nerve damage.

CMT UK Offering Video Series of Exercises for Home Use

To promote physical activity in people with Charcot-Marie-Tooth (CMT) disease, the charity CMT UK shared seven exercise videos that patients can carry out in the comfort of their home. The exercises are presented by Rebekah Knight, a physiotherapist diagnosed with CMT1A, the most common form of CMT…

CMT Research Foundation Calls for Action During Awareness Month

The CMT Research Foundation (CMTRF) wants to turn September from Awareness Month into “CMT Action Month.” This year, the foundation is seeking to turn awareness of Charcot-Marie-Tooth (CMT) disease into action through useful and informative videos, personal fundraising pages, and a “double-your-donation” fundraising campaign. Launched in 2018…