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.
EMG
The acronym for Electromyograph. Electromyography is a minimally invasive diagnostic study that measures electrical activity produced in a muscle in response to…
Definition
Gene Expression
The process by which a genes coded information is converted into the structures present and operating in the cell…
Definition
Intermediate Neuropathy
Peripheral nerve conduction characteristics that overlap demyelinating CMT and…
Definition
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…
Definition
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…
Definition
What Is X-Linked Recessive Inheritance?
X-linked recessive inheritance refers to genetic diseases associated with mutations in genes on the X chromosome…
DefinitionThe 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.