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.
Biallelic
aka: bi-allelic, biallelic null
Affecting both copies of a gene; the basis of recessive disease.
Cavovarus Foot
aka: cavovarus foot, cavo-varus foot, high-arched foot, high arch foot, high arches, supinated foot, inverted foot posture
The classic CMT foot has a name: cavovarus, a high, rigid arch with the heel turned inward, built by muscle imbalance…
Charcot Foot
aka: Charcot neuroarthropathy, Charcot neuropathic osteoarthropathy, CN
Often confused with the CMT foot, Charcot foot is a separate condition in which the foot collapses from within. Charcot foot rarely occurs in…
Chromosome
aka: DNA chromosome, genetic chromosome
The genes behind CMT sit on our chromosomes, the organized bundles of DNA packed inside every cell…
CMAP
aka: compound muscle action potential, motor response amplitude, nerve response amplitude
During the nerve tests people with CMT often get, the CMAP is the muscle's electrical response, showing how well the motor nerves drive it…
Compound Heterozygous
aka: compound het, two different variants, two different mutations, double heterozygous
In some recessive CMT, the two mutated gene copies aren't identical, a different change on each, called compound heterozygous…
Consanguineous
aka: related parents, shared ancestry, biologically related parents, blood-related parents
Consanguineous is the technical term for being related by blood, descended from a common ancestor…
Contractures
aka: clawed fingers, clawed toes
As CMT tightens muscles and tendons, joints can stiffen and fix in place, and those permanent shortenings are contractures…
De Novo
aka: de novo variant, new mutation, spontaneous mutation, not inherited mutation, first-time mutation
Not all CMT is inherited from a parent. Sometimes the mutation appears randomly on its own, a de novo variant…
Demyelinating
aka: myelin loss, myelin damage, myelin sheath damage, slow nerve conduction, myelin-related neuropathy
The most common forms of CMT are demyelinating, meaning the damage is to the myelin that insulates the nerves…
Distal
aka: farther from the body, farthest from the center of the body, hands and feet, outer parts of the limbs
CMT often affects distal first, the parts farthest from the body's center, which is why the feet and hands are…
Dominant
aka: dominant inheritance, dominant gene, dominant trait, one-copy inheritance
The most common CMT is inherited in a dominant pattern: a single mutated gene copy is enough to cause the disease…
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