The CMT Glossary provides definitions for scientific and medical terms commonly used and heard in CMT.
This resource is offered for general informational purposes only and is not intended to diagnose any medical condition or replace professional medical advice.
Myelopathy
aka: spinal cord compression, cervical myelopathy
Myelopathy is a spinal cord problem, and naming it is important in CMT because CMT affects the peripheral nerves, not the cord…
NCS
aka: nerve conduction study, nerve conduction test
If you have CMT, you have probably had an NCS: the nerve conduction study that measures how well your nerves carry their signals…
NCV
aka: nerve conduction velocity, conduction velocity
One key number a nerve conduction study produces is the NCV, how fast a nerve sends its signal, and in CMT it is often slowed…
Neomorphic
aka: neomorph, neomorphic gain-of-function, neomorphic allele
A gain of function in which the mutant protein acquires a new, abnormal activity.
Neuropathy
aka: nerve damage, peripheral neuropathy
CMT is, by definition, a neuropathy, a disease of the nerves, and because it involves many at once, a polyneuropathy…
Nucleotide
aka: DNA base
CMT can begin with a change as small as a single nucleotide, one swapped letter in the chemical code of DNA…
Orthosis
aka: brace, orthotic device
Much of managing CMT at the foot and ankle comes down to an orthosis, the formal word for the brace that steadies a weak, unstable joint…
Orthotic
aka: orthotic device, shoe insert
The braces and inserts that hold a CMT foot in better alignment are orthotics, knowing the word helps you talk with your care team…
Orthotist
aka: certified orthotist, orthotics practitioner
The person who designs and fits the braces so many people with CMT rely on is the orthotist, a key part of the care team…
Overactivity
aka: hyperactivity, hypermorphic, constitutive activity
A gain of function in which the protein does too much of its normal job.
Paresis
aka: partial paralysis, muscle weakness
That partial weakness CMT causes in a muscle, not full paralysis but not full strength either, has a name: paresis…
Patella Alta
aka: high-riding patella, high patella
A kneecap that sits too high has a name, patella alta, and it can add to the knee instability some people with CMT face…
The Dorsal Root
More From The Dorsal Root
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.
CMT-SORD: What Is This Unique 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.