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.
Monogenic
aka: single-gene, Mendelian, monogenic disease
Caused by a variant in a single gene.
Motor Nerve
aka: efferent nerve, motor neuron
The weakness CMT brings to the feet, legs, and hands traces back to the motor nerves, the ones that carry movement out to the muscles…
Multigenic
aka: polygenic, multi-gene
Influenced by variants in more than two genes.
Myelin
aka: myelin sheath
In the demyelinating forms of CMT, the trouble lies in the myelin, the insulating sheath wrapped around every nerve fiber…
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…
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