Experts in CMT

Clear Answers for a Confusing Disease

Where to start?

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

Start here if:

  • You have a gene but no subtype
  • Your diagnosis is weird
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Start here if:

  • You know the gene, but want the how
  • You want to know what the variant does
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  • You’re comparing subtypes

Start here if:

  • Genetics came up
  • Testing was mentioned
  • You’re not sure why testing matters
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Common CMT Confusions

Featured Subtype

Gene PRX
Inheritance autosomal recessive
Discovered 2001
Chromosome 19q13.2
Neuropathy Demyelinating

What Is CMT4F?

CMT4F is a type of CMT caused by mutations in the PRX gene. This gene provides instructions for producing periaxin, a protein that plays an important role in maintaining the structure and stability of the myelin sheath in peripheral nerves. Mutations in the PRX gene disrupt normal Schwann cell function and myelin maintenance, leading to impaired nerve signal transmission.

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

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