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.
Cavovarus Foot
The term “cavovarus” refers to a foot with an arch that is higher than normal, and that turns in at the heel. This is a deformity that tends to worsen gradually over time. Depending on the age of the patient and the degree of deformity and stiffness…
Definition
Chromosome
A carrier of genetic information that is visible under an ordinary light microscope. Each human chromosome has two arms: the p (short) arm, and the q (long) arm. Generally, the nucleus of a human cell contains two…
Definition
CMAP
The compound muscle action potential (CMAP) is defined as the summated muscle fiber action potentials recorded from a surface electrode overlying a muscle after stimulation of the corresponding…
Definition
Compound Heterozygous
The presence of two different mutant alleles at a particular gene locus, one on each chromosome of a pair. The human genome contains two copies of each gene: a paternal and a maternal allele. A mutation affecting…
Definition
Consanguineous
Consanguinity: Close blood relationship, sometimes used to denote human inbreeding. Mating of closely related persons can cause significant genetic disease in offspring. Everyone carries rare recessive genes that, in the company of other genes…
Definition
Contractures
A permanent shortening (as of muscle, tendon, or scar tissue) producing…
Definition
De Novo
A genetic alteration that is present for the first time in one family member as a result of a variant (mutation) in a germ cell (egg or sperm) of one of the parents, or a variant that arises…
Definition
Demyelinating
Causing or characterized by the loss or destruction of myelin. As this pertains to CMT, demyelinating refers to the types/subtypes of CMT in which there is…
Definition
Distal
The more (or most) distant of two (or more) things, the points farthest away from the brain and spinal cord. Regarding CMT, the distal nerve endings (feet and hands) tend to be…
Definition
Dominant
A genetic trait is considered dominant if it is expressed in a person who has only one copy of a particular gene mutation. (In genetic terms, a dominant trait is one that…
Definition
Dysarthria
A speech disorder caused by muscle problems. It can make it hard to talk and people may have trouble…
Definition
Dyspnea
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.