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.
Pes Planus
aka: flat foot, flatfoot, fallen arches
Not every CMT foot has a high arch, sometimes it is the opposite, a flat foot known as pes planus…
Phrenic Nerve
aka: diaphragmatic nerve
When CMT impacts the breathing muscles, the phrenic nerve is part of the why…
Polyneuropathy
aka: peripheral polyneuropathy
CMT affects many nerves at the same time, which makes it a polyneuropathy: poly meaning many…
Proband
aka: index case, propositus
In a family with CMT, the proband is the first person diagnosed, the one whose case brings the whole family's history to light…
Proprioception
aka: position sense, kinesthesia
Ever notice balance getting harder with CMT? Part of it is proprioception, your body's sense of where it is in space…
Proximal
aka: near, toward the center
As CMT progresses, weakness can move proximal, closer to the center of the body, after starting in the distant feet and hands…
Recessive
aka: recessive trait, recessive allele
A recessive form of CMT takes two: the same mutated gene copy inherited from each parent, not just one…
Repeat Expansion
aka: trinucleotide repeat, tandem repeat expansion, short tandem repeat expansion
A short DNA sequence abnormally repeated many times, often toxic.
Schwann Cells
aka: neurolemmocytes
The specialized cells that make and maintain peripheral myelin. In many forms of CMT, these cells…
Sensorineural
aka: sensory-neural
When CMT affects hearing, the loss is called sensorineural, a word that points to the sensory nerve and its pathway…
Sensorineural Hearing Loss
aka: SNHL, nerve deafness
For some people, CMT reaches the ears, and the result is sensorineural hearing loss, damage to the inner ear or its nerve…
Sensory Nerve
aka: afferent nerve
CMT affects the sensory nerves too, the ones that carry touch, temperature, and pain signals back to the brain…
The Dorsal Root
More From The Dorsal Root
A Name That Does Too Much Work
Jean-Martin Charcot's name appears throughout medicine, but nowhere does it create more confusion than in the foot. Learn why the CMT foot and Charcot neuroarthropathy, also known as Charcot foot, share a name yet differ in how they develop, appear, and are managed.
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.