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.
AFO
aka: Ankle Foot Orthosis
The most familiar brace in CMT is the AFO, which supports the foot and ankle to steady a foot the disease has weakened…
Allele
CMT runs through families in the versions of a gene we inherit, and each version is called an allele…
Arthrogryposis
aka: Arthrogryposis multiplex congenita, AMC, congenital contractures, multiple congenital contractures, distal arthrogryposis, DA, amyoplasia, arthrogryposis syndrome
Sometimes confused with the clawed fingers and toes of CMT, arthrogryposis is a different thing: joints fixed in place from birth…
Autonomic Nervous System
aka: autonomic system, ANS, involuntary nervous system, automatic nervous system
The autonomic nervous system runs the body's automatic jobs, heartbeat, digestion, sweating, and in some forms of CMT it can be affected…
Autonomic Neuropathy
aka: ANS neuropathy, dysautonomia, autonomic dysfunction, autonomic nerve damage
When the automatic nerves are damaged, the result is autonomic neuropathy, and it turns up in some forms of CMT…
Autosomal
aka: non-sex chromosome, body chromosome
Most CMT is inherited through the autosomes, the 22 numbered chromosome pairs that are not the sex chromosomes…
Autosomal Dominant
aka: AD inheritance, dominant inheritance, dominant genetic pattern, dominant trait
The most common way CMT is inherited is autosomal dominant: one mutated copy of a gene is enough to cause the disease…
Autosomal Recessive
aka: AR inheritance, recessive inheritance, recessive genetic pattern, recessive trait
Some forms of CMT are autosomal recessive, needing two mutated gene copies, one from each parent, to cause the disease…
Autosome
An autosome is any of the 22 numbered chromosome pairs, where most of the genes behind CMT are found…
Axon
aka: lamp cord, nerve wire, nerve
In the axonal forms of CMT, the axon is affected, the long fiber that carries a nerve's signal…
Axonal
aka: axon-type, axon-related, axon damage, nerve fiber damage
The axonal forms of CMT are those where the damage is in the axon itself, rather than its myelin coating…
Axonopathy
aka: axon damage, axonal degeneration, axonal neuropathy
Axonopathy is nerve disease that primarily damages the axons, and axonal CMT is one kind…
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.