Diagnosis
How CMT and other neuropathies are diagnosed, from nerve conduction studies and EMG to genetic testing, and why diagnosis often takes years.
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What Happened to CMT2A1? KIF1B and the Disputed Rating
In October 2026 ClinGen’s Charcot-Marie-Tooth expert panel rated the KIF1B–CMT2A1 link “Disputed.” Here’s how that label arose, what the panel found, and how to interpret older references to the gene and disease variant.
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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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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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Cal Newport has something surprisingly sane to say about AI — and medicine, and many other topics
David Epstein and Cal Newport discuss the possible impact of AI on medicine and medical diagnostics.
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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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New Gene (PSAT1) Linked to Treatable CMT-like Outcomes
Two children with a CMT-like neuropathy caused by PSAT1 variants improved after taking serine, an early observation from one case report. It raises more questions about how CMT types are defined and diagnosed.
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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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Do I Have Sleep Apnea?
Previously I mentioned and linked to several of the self-tests that can be done to check the likelihood of having sleep apnea. One of these self-evaluation tests is called STOP-BANG, and you can get it at the Harvard Medical School website.
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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.