CMT Genetics

Just genetics. Noise-free.

What’s in a name?

  • The classifications defined
  • From historic to current
  • Roussy-Lévy
  • HNPP
  • Dejerine-Sottas

CMT. Curated.

  • CMT genes and subtypes
  • Easy to use
  • Subtype-specific symptoms
  • Core genetic data
  • Reference publications

The gene, resolved

  • You’re a researcher/scientist and need details about CMT genes
  • You have a CMT gene and need to know its function
  • You have a gene, but don’t know if it’s implicated in CMT
  • You like browsing gene tables

The how, not the what

  • Mechanisms by gene
  • What the variant does
  • Loss vs gain of function
  • Why subtypes differ
  • Curated from publications

The info that matters

  • Types of tests
  • When to test
  • Genetic test limitations
  • Who to see
  • Commonly ordered tests

Explore More

The Dorsal Root

More From The Dorsal Root

A Name That Does Too Much Work

Jean-Martin Charcot's name appears throughout medicine, but nowhere does it create more confusion than in the foot. Learn why the CMT foot and Charcot neuroarthropathy, also known as Charcot foot, share a name yet differ in how they develop, appear, and are managed.

When Medicine Lost Its Compass

Evidence failed not because it was wrong, but because it was weaponized. I lived the downstream effects of that failure for more than a decade. This is what happens when medicine forgets that data always ends in a human being.

Error 404: Gene Not Found

CMT genetic testing often fails to identify the cause of the disease, even when comprehensive panels are used. Here, we discuss why this happens, what genetic tests can and cannot do, and why a negative result still matters.