Genetics
Genetics is the study of inheritance. Genetic testing examines a person’s DNA for variations that can confirm or rule out a suspected genetic disease such as CMT. More in the glossary
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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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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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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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The “First Treatable CMT Disease” is Neither CMT Nor a Disease
CMT-related research may truly do away with CMT disease first by eliminating or updating how naming and classification works in neurological pathology.
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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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Disease, Depression, and Family Denial
CMT and other hideable/hidden diseases may often be denied by the people closest to you — a potentially devastating, psychologically defeating, and depressing, gaslit reality that is toxic and abusive.
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Maybe it will work on CMT..?
It seems the new hope for VM202 as a CMT1A treatment is perhaps Helixmith’s latest attempt to find a market for an experimental product that has not panned out as hoped.
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A New Genetic Cause of a Previously Unknown Subtype of CMT2
Published in Nature Genetics last month, the INC group’s findings are a big deal, and there is a really cool story from the University of Miami’s Miller School of Medicine about how the research team came together.
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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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CMT and COVID-19
The Inherited Neuropathy Consortium (INC) is asking for CMTers with a COVID diagnosis to take an anonymous questionnaire.