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.
SNAP
aka: sensory nerve action potential
When a nerve study checks the sensory side in CMT, the SNAP is the reading it captures, a measure of how well a sensory nerve conducts…
Steppage Gait
aka: high-stepping gait, neuropathic gait
The high-stepping walk that lifts the leg to clear a dragging foot has a name, steppage gait, and it is a hallmark of CMT…
Toxic Gain of Function
aka: GoF, gain of function, gain-of-function, toxic gain-of-function
A variant that adds a new toxic activity or too much normal activity.
Variant
aka: mutation, gene variant
In CMT genetic testing, the mutation found in a gene goes by a softer name, a variant, and how it gets classified can change everything…
Variant Mechanism
aka: mechanism of pathogenicity, disease mechanism, molecular mechanism
How a pathogenic variant causes disease, beyond which gene is affected.
What Is a VUS?
The acronym for Variant of unknown or uncertain significance. A variation in a genetic sequence for which the association with disease risk is unclear…
What Is X-Linked Dominant Inheritance?
X-linked dominant inheritance refers to genetic diseases associated with mutations in genes on the X chromosome. A single copy of…
What Is X-Linked Recessive Inheritance?
X-linked recessive inheritance refers to genetic diseases associated with mutations in genes on the X chromosome…
X-Chromosome
aka: chromosome X, sex chromosome
The X-linked forms of CMT ride on the X chromosome, one of the two sex chromosomes, which shapes how they pass through families…
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