Diagnosis
How CMT and other neuropathies are diagnosed and classified, from nerve conduction studies to genetic panels.
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Who Decides What Counts as CMT?
No single body owns the word CMT. Here is where the edge cases sit, who decides, how they decide, and how cmt.blog handles it.
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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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Introducing the Open CMT Gene Table
CMT’s gene and subtype names don’t line up, and I haven’t found an open table that sorts them out. So I made one: 70 genes, their old and new names, and how strong the evidence is for each, free to download.
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The Sloth’s Taxonomy: A Review of “Experts in CMT”
Experts in CMT stretches a contested CMT taxonomy wider, brands its uncredentialled author an expert, and cites his employer, the CMTA, without disclosing it as such.
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Diagnostic Pathways for Idiopathic Neuropathy
“You have a serious illness of an undisclosed nature.”
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CIDP and CMT
CIDP and CMT can be mistaken for each other, especially demyelinating CMT1. How often misdiagnosis happens, and why it matters since CIDP is treatable.
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Differential Diagnosis with Dr. ChatGPT in the House
In a matter of seconds, ChatGPT reviewed and confirmed the findings of three neurologists and a genetic counselor that took me six years to gather. It also suggested a new diagnostic path that was only vaguely hinted at by the human diagnosticians.
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Physical Assessments for CMT
There are several validated assessment instruments for CMT to take stock of its current and later states of progression.
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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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Late Diagnoses
In the past the norm was we didn’t get a diagnosis, so family and friends just shrugged it off and called us “clumsy” or pretended nothing was wrong. I hope this is an outlier experience, but I was pushed into sports, like track and cross country, in high school when my feet and ankles became…
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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.