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.
Orthotist
aka: certified orthotist, orthotics practitioner
The person who designs and fits the braces so many people with CMT rely on is the orthotist, a key part of the care team…
Overactivity
aka: hyperactivity, hypermorphic, constitutive activity
A gain of function in which the protein does too much of its normal job.
Paresis
aka: partial paralysis, muscle weakness
That partial weakness CMT causes in a muscle, not full paralysis but not full strength either, has a name: paresis…
Patella Alta
aka: high-riding patella, high patella
A kneecap that sits too high has a name, patella alta, and it can add to the knee instability some people with CMT face…
Pathogenic
aka: disease-causing, pathogenic variant
When a CMT genetic test calls a variant pathogenic, it is saying the evidence points to this change causing the disease…
Pathogenic Variant
aka: pathogenic mutation, disease-causing variant, mutation
A DNA change that causes or contributes to disease.
Pelvic Girdle
aka: hip girdle, pelvis
As CMT weakness climbs from the feet, it can reach the pelvic girdle, the ring of bone that links the spine to the legs…
Penetrance
aka: complete penetrance, reduced penetrance
Why can the same CMT variant affect two people in the same family so differently? Penetrance is part of the answer…
Peripheral Nervous System
aka: PNS
CMT is a disease of the peripheral nervous system, the vast web of nerves that connect the brain and spinal cord to the rest of…
Peroneal Muscle
aka: fibularis muscles, peroneals
The peroneal muscles are the muscles on the outer lower leg that help steady the foot and ankle, and they are among…
Peroneal Nerve
aka: fibular nerve, common peroneal nerve
The peroneal nerve, which lifts the foot, is almost always affected in CMT, which is why foot drop is so common…
Pes Cavus
aka: high arch, high-arched foot
The high-arched foot is so common in CMT that it is often called a hallmark of the disease, its formal name is pes cavus…
The Dorsal Root
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When Medicine Lost Its Compass
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Error 404: Gene Not Found
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