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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 new and treatable cases of peripheral neuropathy reported in children raise more questions about the definition and diagnosis of CMT types.
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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 Hellxmith’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.
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Genetic Cause of CMT2 Discovered?
A recent study published in the Journal of Clinical Investigation looked at two unrelated families with CMT2 and identified “autosomal dominant mutations of the canonical Notch ligand Jagged1 (or JAG1)” in them — a likely cause for their CMT that was also backed up by experiments in mice. Update, October 2026: JAG1-related CMT now has…
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New Genetic Diagnostics for CMT
Here’s an informative article from Charcot-Marie-Tooth News about current best practices in genetic diagnosis of CMT. A lot of examples are given of people with less common subtypes who waited a long time to get properly diagnosed — sometimes after many years of wrong diagnoses or none at all. Today the best path to a…
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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.
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