Newsletter
Time-sensitive news, research updates and Foundation events. Everything here is reviewed by CMTFOI before publication and appears newest first.
Important current CMT-related developments and timely community or scientific news.
A research paper evaluated PCR-RFLP, a standard DNA testing technique, as an accessible genetic screening method for hereditary neuropathies, including Charcot-Marie-Tooth type 1A (CMT1A).
PubMed / NCBI
A study combining a retrospective review of eight male patients and laboratory cell experiments investigated two newly identified gene variants in the GJB1 gene, which causes Charcot-Marie-Tooth disease X-linked Type 1 (CMTX1).
PubMed / NCBI
A 10-year retrospective record review examined patients whose Charcot-Marie-Tooth (CMT) symptoms began after age 50. Researchers found that 8.9% of older adults tested for suspected hereditary nerve conditions had genetically confirmed CMT, often marked by high foot arches, a family history of neuropathy, or specific nerve signal test results.
PubMed / NCBI
A study using standing CT scans evaluated how ankle-foot orthoses (AFOs) affect foot posture in 20 adults with Charcot-Marie-Tooth disease. Researchers found that standing in AFOs did not reduce cavovarus (high-arched and inward-curved) foot deformity compared to standing barefoot, suggesting that brace benefits may come from ankle stability rather than correcting foot shape.
PubMed / NCBI
A bibliometric analysis—a type of study that tracks and measures published scientific literature—analyzed 1,531 CMT articles published between 2014 and 2024. The study showed steady growth in CMT research worldwide, with a strong focus on genetics, molecular diagnosis, and newer topics like advanced DNA sequencing.
PubMed / NCBI
The European Charcot-Marie-Tooth Federation has highlighted the release of AFM-Telethon's 2026 edition of 'Advances in Charcot-Marie-Tooth Disease', a document created for patients, advocacy groups, and clinicians.
ECMTF
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