CMT1
CMT1 is the traditional label for autosomal dominant, demyelinating CMT, with motor nerve conduction velocities below about 35 m/s. More in the glossary
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Plain-Language Research Summary: A Blood Test for Nerve-Fibre Loss in CMT
A 2025 study found the nerve-damage protein NfL more than twice as high in the blood of people with CMT, and loosely linked to severity. What it shows, what it can’t, and how it fits with earlier studies.
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Name Games: Why CMT Type Names Are a Mess, and How to Find Reliable Information
CMT’s type names grew out of nerve tests and a run of lettered genes. They no longer line up. Here is how the naming got this messy, where it is heading, and which sources to trust.
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All types of CMT are “Axonal”
CMT1 types have commonly been referred to as “demyelinating” and CMT2 as “axonal,” which gives the impression the nature of the nerve damage between the two is fundamentally different.
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New Study of Genetic Causes of CMT Needs Participants
The Rare Diseases Network is looking for participants in a new study looking for unknown causes of the most common types of CMT.
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Genetic Cause of CMT2 Discovered?
A 2020 study linked JAG1 mutations to axonal CMT2 in two families. Updated in 2026: JAG1-related CMT now has its own OMIM entry, CMT2HH.
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New Genetic Diagnostics for CMT
Current best practice in genetic diagnosis of CMT starts with PMP22 testing. How genetic testing, nerve conduction studies, and EMG lead to a diagnosis.
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Sleep Apnea and CMT
Studies show CMT tends to come with Disturbed Sleep, Depression, and Reduced Quality of Life. 😞 This post summarizes the scientific research I’ve absorbed on the subject of CMT and sleep apnea. It’s definitely accurate relative to my own experience in the past year or so.
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The State of Research for Cures (2019)
The US-based CMTA (Charcot Marie Tooth Association) has a 12-year-old program called the Strategy to Accelerate Research (STAR) that is actively pursuing the causes and possible cures for CMT. STAR will cover nearly all CMT Type 1s and 2s, including types with as yet unidentified genetic causes.
