Experts in CMT

Clear Answers for a Confusing Disease

“Close-up of a human hand reaching toward a glowing DNA double helix with connected nerve structures in the background, symbolizing the link between genetics and peripheral nerve function. A holographic outline of a lower leg and foot appears in the distance, representing Charcot-Marie-Tooth disease research.”

Where to start?

What Is CMT?

Start here if:

  • New diagnosis
  • First exposure
  • Family member with CMT
  • “I don’t know what this even is”
  • Just looking for basic info about CMT

The Database

Start here if:

  • You have a gene but no subtype
  • Your diagnosis is weird
  • You need subtype symptoms
  • You want to dig deeper
  • You want details, not bloat

Genetic Testing

Start here if:

  • Genetics came up
  • Testing was mentioned
  • You’re not sure why testing matters
  • You want the bigger picture
  • You need info to bring to your doctor

Common CMT Confusions

Some questions don’t resolve cleanly.

The Dorsal Root

Long-form discussions for the questions search can’t answer yet.

When you need:

  • Context, not keywords
  • Deeper dives without the bloat
Illustrated graphic showing large ‘404’ numerals with people interacting with data screens and servers, alongside text reading ‘CMT Genetic Testing Error 404: Gene Not Found’ and ‘Examining Why Less Than Half of All Who Have Charcot-Marie-Tooth Disease Are Not Able to Obtain Genetic Confirmation of Their Disease.

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.

Person jumping between two red rock formations in a desert landscape under a blue sky.

The idea that CMT skips a generation is a misconception rooted in complex inheritance patterns. This article explains how dominant, recessive, X-Linked, and de novo mutations interact, and why CMT doesn’t skip a generation.

Group of people sitting on grass gathered around a large paper map, pointing and discussing directions.

CMT is often described as a single disease, but genetically it is anything but. From autosomal and X-Linked inheritance to de novo and mitochondrial mutations, this piece explains how CMT begins, how it’s passed on, and why family history doesn’t always tell the full story.

Illustrated cover graphic showing a split landform with branching directional arrows, two people with question marks above their heads, and the title ‘SORD Deficiency: Decoding This Newly Discovered and Confusing CMT Subtype.

CMT-SORD is a newly discovered CMT subtype driven by toxic sorbitol accumulation. This article explains how “SORD” works, why this subtype is different, and how it led to the fastest-moving therapeutic program in CMT history.


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