CMT words and the people who help
A CMT diagnosis can come with unfamiliar words, abbreviations, equipment, and medical specialties. A family may be told to see a rehabilitation doctor called a physiatrist, ask about an ankle-foot brace called an AFO, monitor a sideways curve of the spine called scoliosis, or schedule a nerve conduction study—a test that checks how well messages travel through the nerves—without anyone stopping to explain what those things actually mean.
No family should have to pretend they understand.
This page is a starting point. We use the medical term because you may hear it in an appointment or read it in a report. Then we translate it into everyday language and explain what it can look like in real life. For a few of the hardest ideas, we also include a simple way to explain it to a child.
Not every person with CMT needs every specialist, test, or piece of equipment. Needs differ by CMT type, age, symptoms, goals, and what is changing over time.
Last medically reviewed: September 2026
The care team
Primary care doctor or pediatrician
In everyday language: The clinician who looks after overall health and is often the first person a family contacts when something changes.
What they may help with: Routine health care, common illnesses, general concerns, referrals, and coordinating information from different specialists. A CMT specialist does not replace ordinary primary care.
Neurologist
In everyday language: A doctor who specializes in the brain, spinal cord, nerves, and muscles. CMT affects the peripheral nerves, so a neurologist is often central to diagnosis and follow-up.
A simple way to remember it: A neurologist is the nerve doctor.
What they may help with: Strength, sensation, reflexes, balance, walking, pain, fatigue, nerve testing, and changes in function. A neurologist may also help interpret how a person’s symptoms fit with a particular CMT diagnosis.
Medical geneticist and genetic counselor
In everyday language: Genetics professionals help families understand genetic testing, what a result means, and how a condition may be inherited.
What they may help with: Explaining the gene and variants involved, discussing whether relatives might benefit from testing, and helping families understand inheritance and reproductive questions. A genetic result can clarify a diagnosis, but it usually cannot predict one person’s exact future.
Physical medicine and rehabilitation doctor - PM&R or physiatrist
Medical meaning: A physiatrist (pronounced “fizz-ee-AT-rist”) is a medical doctor who specializes in Physical Medicine and Rehabilitation, often abbreviated PM&R.
In everyday language: A rehabilitation doctor who focuses on function and everyday independence: how a person moves, participates, manages pain or fatigue, uses braces or equipment, and works toward mobility and other daily-life goals.
What they may help with: Movement, mobility, pain, fatigue, therapy goals, braces, adaptive equipment, and coordination among physical therapy, occupational therapy, and other rehabilitation services. A physiatrist is not a psychiatrist and is not a physical therapist.
A simple way to remember it: A physiatrist is a doctor who asks, “How can we help your body work better in everyday life?”
Orthopedic doctor or orthopedic surgeon
In everyday language: A doctor who treats problems involving bones, joints, muscles, feet, and the spine. Pediatric orthopedists specialize in children who are still growing.
What they may help with: Foot shape, tight heel cords, joint contractures, hip concerns, scoliosis, spinal bracing, casting, and decisions about whether surgery should be considered. Seeing an orthopedic surgeon does not automatically mean surgery is needed.
Physical therapist - PT
In everyday language: A movement specialist who evaluates how a person walks, balances, moves, and uses strength and flexibility.
What they may help with: Gait, balance, fall risk, stretching, joint range of motion, endurance, safe activity, transfers, and mobility equipment. A CMT-informed plan should be individualized rather than based on a generic exercise program.
Occupational therapist - OT
In everyday language: A specialist who helps people perform the everyday activities they need or want to do at home, school, work, and in the community.
What they may help with: Hand weakness, handwriting, buttons and zippers, dressing, bathing, eating, school or workplace tasks, fatigue, adaptive tools, and ways to reduce unnecessary effort.
A simple way to remember PT and OT: PT often helps with getting around. OT often helps with getting things done. Their work can overlap.
Orthotist
In everyday language: A trained professional who evaluates, designs, fits, and adjusts braces called orthoses. An orthotist is not the same as an orthopedic doctor.
A simple way to remember it: The orthopedist is the medical doctor. The orthotist is the brace specialist.
What they may help with: Selecting and fitting AFOs or other braces, checking alignment and comfort, making adjustments, and helping solve problems with shoes, pressure points, skin irritation, or day-to-day use.
Audiologist and ear, nose, and throat doctor - ENT
In everyday language: An audiologist tests and manages hearing and balance concerns. An ENT is a medical doctor who treats conditions involving the ears, nose, throat, and related structures.
What they may help with: Hearing changes, hearing tests, balance concerns, hearing devices, and - when relevant - voice, swallowing, or vocal-cord concerns. Hearing problems occur in some CMT types, but not everyone with CMT develops them.
Pulmonologist
In everyday language: A doctor who specializes in breathing and the lungs.
What they may help with: Shortness of breath, weak cough, breathing during sleep, respiratory muscle concerns, and pulmonary function tests. Breathing involvement is uncommon in many forms of CMT but can be relevant in certain subtypes, including CMT4C.
Braces, equipment, and everyday support
Orthosis, orthotic, and orthotics
Medical meaning: An orthosis is a device used to support, position, protect, or improve the function of part of the body. Orthoses is the plural.
In everyday language: It is something worn on the body to help support it. People often say orthotic or orthotics. They may mean a shoe insert, but they may also mean a larger brace, so it is okay to ask, “What kind?”
What it can look like: A shoe insert, ankle brace, wrist support, or spinal brace.
Who may help: An orthotist evaluates and fits many braces. A physical therapist, rehabilitation doctor, or orthopedic doctor may also help decide what kind of support is appropriate.
AFO - ankle-foot orthosis
Medical meaning: AFO stands for ankle-foot orthosis. It is a brace that supports the lower leg, ankle, and foot.
In everyday language: It is a brace worn on the leg and foot to make standing or walking safer or less tiring.
What it can look like: It may help stop the toes from dragging, steady an ankle that rolls, improve balance, or make each step take less effort.
A simple way to explain it to a child: “This brace helps hold your foot in a safer position when you walk.”
AFOs are not all the same. Some are flexible, some are hinged, some are solid, and some use carbon fiber or other materials. The right design depends on the person’s movement, strength, joint flexibility, skin, shoes, daily activities, and goals.
Who may help: An orthotist fits and adjusts the brace. A physical therapist can look at how it changes walking. The prescribing clinician helps define the goal.
An AFO should be reassessed when it causes persistent pain, rubbing, skin injury, poor alignment, new difficulty walking, or no longer fits. A brace should solve a problem, not simply be handed over without explanation.
Spinal brace or TLSO
Medical meaning: A spinal brace supports the torso rather than the ankle and foot. TLSO stands for thoracolumbosacral orthosis, meaning the brace covers parts of the upper, middle, and lower trunk.
In everyday language: It is a brace worn around the body to support the spine.
What it can look like: It may fit under or over clothing and wrap around the chest, back, waist, or hips, depending on its design.
For a growing child with scoliosis, a spinal brace may be recommended with the goal of slowing progression of the curve or supporting alignment. Results vary. The design and wearing plan depend on the type and size of the curve, growth remaining, the underlying condition, and the orthopedic team’s goals.
Adaptive equipment
In everyday language: Adaptive equipment means tools that make an activity safer, easier, or more independent.
What it can look like: Adapted writing tools, zipper pulls, shower chairs, grab bars, reachers, modified utensils, or equipment that makes dressing easier.
Who may help: An occupational therapist often helps match tools to the actual task and person.
Mobility aid or mobility equipment
In everyday language: Equipment that helps a person get around safely, save energy, or participate more fully.
What it can look like: Canes, crutches, walkers, wheelchairs, power mobility, adaptive cycles, or other supports.
Using mobility equipment does not mean someone has failed or stopped trying. The right equipment can conserve energy, reduce falls, increase independence, and make room for school, work, family life, and activities that matter.
Durable medical equipment - DME
Medical meaning: DME stands for durable medical equipment. It is an insurance and health-care term for certain equipment intended for repeated use.
In everyday language: It is a category insurers and medical suppliers use for equipment such as wheelchairs, walkers, and some positioning devices. Calling something DME does not guarantee coverage. Coverage depends on the plan, documentation, supplier, and rules.
Common body and movement terms
Peripheral nerves
Medical meaning: Peripheral nerves are the nerves outside the brain and spinal cord. They carry messages between the brain and spinal cord and the rest of the body.
In everyday language: They are the body’s message lines. Some carry instructions out to the muscles. Others carry information such as touch, pain, temperature, and body position back in.
A simple way to explain it to a child: “Your nerves are like message wires between your brain and your body. CMT can make some of those messages slower or weaker.”
CMT primarily affects these peripheral nerves.
Neuropathy
Medical meaning: Neuropathy means damage or dysfunction involving nerves.
In everyday language: The nerves are not carrying messages as they normally would. In CMT, this can affect movement, feeling, balance, and the way muscles are activated.
Motor and sensory
Medical meaning: Motor refers to movement. Motor nerves send signals that help muscles work. Sensory refers to feeling. Sensory nerves carry information such as touch, pain, temperature, and awareness of where the body is positioned.
In everyday language: Motor nerves help the body move. Sensory nerves help the body feel and know where it is.
CMT is often described as a motor and sensory neuropathy because it can affect both systems.
Demyelinating and axonal
Medical meaning: The axon is the part of a nerve that carries the signal. Myelin is the protective insulating layer around it.
In everyday language: A nerve can be compared loosely to an electrical wire. The axon is like the wire carrying the message. Myelin is like the coating around the wire that helps the message travel properly.
In a demyelinating neuropathy, the myelin is primarily affected and nerve signals may travel more slowly. In an axonal neuropathy, the axon itself is primarily affected and the signal may become weaker. Some forms have features of both.
A simple way to explain it to a child: “Sometimes CMT affects the message wire. Sometimes it affects the protective coating around the wire.”
These labels help clinicians classify CMT, but they do not by themselves predict how mild or severe one person’s experience will be.
Muscle weakness and muscle atrophy
Medical meaning: Weakness means a muscle cannot produce the expected amount of force. Atrophy means a muscle has become smaller.
In everyday language: The muscle may not pull as strongly as expected, and over time it may become smaller because the nerve is not activating it normally. Weakness is not laziness and cannot always be overcome by trying harder.
Foot drop
Medical meaning: Foot drop means weakness makes it difficult to lift the front of the foot while walking.
In everyday language: The toes may not lift high enough during a step.
What it can look like: Toe dragging, tripping, a slapping sound when the foot lands, or lifting the knee higher to clear the ground.
Who may help: A neurologist or rehabilitation clinician may evaluate the cause. A physical therapist can assess walking, and an orthotist may fit an AFO when appropriate.
Gait
Medical meaning: Gait means the way a person walks.
In everyday language: When someone says they are “checking your gait,” they are looking at your walking pattern.
What they may look at: Balance, step pattern, foot position, joint movement, speed, effort, and safety.
Contracture
Medical meaning: A contracture happens when muscles, tendons, or other tissues become shortened or stiff enough to limit movement at a joint.
In everyday language: A joint can no longer move through its expected range because the tissues around it have become tight.
What it can look like: In CMT, common examples include tight heel cords or an ankle that cannot bend upward as far as expected.
Pes cavus, pes planus, and foot deformity
Medical meaning: Pes cavus means a high arch. Pes planus means a flat arch. A foot deformity is a change in the shape or alignment of the foot.
In everyday language: The foot’s shape or position has changed. This may include a very high or flat arch, curled toes, or a foot that turns inward.
Foot shape alone does not determine treatment. Clinicians also consider pain, skin pressure, flexibility, stability, walking, shoe fit, age, and how the foot is changing.
Scoliosis
Medical meaning: Scoliosis is a sideways curve of the spine that can also involve rotation of the vertebrae.
In everyday language: When viewed from behind, the spine curves to the side instead of appearing straight. It may look more like a C or an S.
What it can look like: One shoulder or hip may appear higher, clothes may hang unevenly, or the curve may first be noticed during an examination or X-ray. Some people have no obvious outward sign.
A simple way to explain it to a child: “Your backbone has a curve in it, and your care team is checking how much it curves and whether it changes as you grow.”
Clinicians measure scoliosis in degrees on an X-ray and follow whether the curve changes over time. Treatment decisions depend on the cause, curve pattern, size, symptoms, growth remaining, progression, and the individual person. CMT4C is one CMT subtype in which spine monitoring can be especially important.
Kyphosis and kyphoscoliosis
Medical meaning: Kyphosis refers to an excessive forward rounding of the upper back when viewed from the side. Kyphoscoliosis means scoliosis and excessive kyphosis are both present.
In everyday language: Scoliosis describes a side-to-side curve. Kyphosis describes too much forward rounding. A person can have one or both.
Fatigue
Medical meaning: Fatigue is persistent physical or mental tiredness that can limit activity or require more recovery.
In everyday language: It is more than being sleepy. With CMT, ordinary movement may take extra work because of weakness, balance demands, braces, pain, or an inefficient walking pattern. Someone may be able to complete an activity but use much more energy doing it.
What it can look like: A child may keep up at the start of an outing and struggle later. An adult may finish a workday but have little energy left for cooking, bathing, or family time. The effort is real even when other people cannot see it.
Activities of daily living - ADLs
Medical meaning: ADLs stands for activities of daily living.
In everyday language: These are basic things people do to care for themselves, such as dressing, bathing, eating, using the bathroom, and moving around safely. Clinicians may also discuss school, work, cooking, shopping, hobbies, and other activities that support independence and participation.
Testing, genetics, and research
Nerve conduction study - NCS
Medical meaning: A nerve conduction study measures how quickly and strongly electrical signals travel through certain nerves. Small electrical pulses are used while the nerve’s response is recorded.
In everyday language: The test checks how well and how fast particular nerves carry messages.
What the appointment may involve: Sticky recording patches are placed on the skin, and brief electrical pulses stimulate selected nerves. The experience varies, and families can ask the testing team to explain each step before it happens.
The results can help clinicians determine whether a neuropathy is present and whether it appears primarily demyelinating, axonal, or mixed.
Electromyography - EMG
Medical meaning: Electromyography, or EMG, measures electrical activity in selected muscles using a thin needle electrode. It is often performed with a nerve conduction study, although they are different tests.
In everyday language: The test checks the electrical activity in particular muscles and can show how the nerves and muscles are working together.
Together, EMG and nerve conduction findings can help show how nerves and muscles are functioning. They do not by themselves identify the exact gene causing CMT.
Gene and genetic variant
Medical meaning: A gene is a section of DNA containing instructions the body uses to make or regulate something. A genetic variant is a change in DNA.
In everyday language: A gene is one part of the body’s instruction book. A variant is a difference in those instructions. Some differences do nothing harmful. Some are known or likely to cause disease. Others are not yet understood.
A simple way to explain it to a child: “Genes are tiny instructions your body was born with. A change in one instruction can affect how part of the body works. It is nobody’s fault.”
A pathogenic or likely pathogenic variant is one that available evidence indicates causes or probably causes disease. A variant of uncertain significance, often called a VUS, is a change whose meaning is not yet clear. Uncertain does not mean harmless or harmful; it means the available evidence cannot yet answer the question.
Genetic testing
Medical meaning: Genetic testing looks for DNA changes that may explain a person’s CMT.
In everyday language: A laboratory reads selected parts of the body’s genetic instructions and looks for a change connected with CMT.
What it may help answer: Finding the responsible gene can clarify the subtype and inheritance pattern and may connect a family with more relevant research. It usually cannot predict exactly what one person’s future will look like.
Not everyone with a clinical diagnosis of CMT receives a definitive genetic answer. Testing technology and knowledge continue to change, so a negative or uncertain result does not automatically rule out CMT.
CMT subtype
Medical meaning: CMT is a group of inherited neuropathies, not one single condition. Names such as CMT1A, CMT2A, CMTX1, or CMT4C refer to different genetic forms or classification groups.
In everyday language: CMT is a family of related conditions. The subtype is the more specific name for the form a person has.
The subtype can provide useful direction, but people with the same subtype can still have different symptoms, timing, and levels of disability.
Genotype and phenotype
Medical meaning: Genotype refers to a person’s genetic information or the particular variants involved. Phenotype refers to observable traits and symptoms.
In everyday language: Genotype is what the genetic result says. Phenotype is how the condition actually shows up in the person, such as weakness, sensation changes, foot shape, scoliosis, or the age when symptoms began.
When clinicians say there is no clear genotype-phenotype correlation, they mean the genetic result does not reliably predict exactly how the condition will appear or progress in every person. Two people with the same CMT subtype—even in the same family—may have different experiences.
Inheritance
Medical meaning: Inheritance describes how a genetic condition can be passed through a family. CMT can follow different patterns, including autosomal dominant, autosomal recessive, and X-linked inheritance.
In everyday language: The inheritance pattern helps explain how a gene change may move through a family and the chance that another relative or future child could inherit it.
The correct explanation depends on the specific gene and variants involved. A genetic counselor can explain what the result means for the individual family without assuming that one CMT pattern applies to everyone.
Preclinical research
Medical meaning: Preclinical research happens before a treatment is tested in people. It may involve cells, laboratory models, or animals.
In everyday language: Researchers are still doing the earlier work needed to understand an idea and gather safety and effectiveness evidence before a human clinical trial could begin.
Why the distinction matters: A successful laboratory or animal study can be an important step, but it does not prove that the approach will be safe or effective in people.
Clinical trial
Medical meaning: A clinical trial is a structured research study involving people. Trials follow a protocol and may study safety, dosage, side effects, biological effects, or whether an intervention helps.
In everyday language: Researchers are testing a specific question with human volunteers under defined rules and oversight.
Joining a trial is not the same as receiving a proven treatment. Eligibility, possible benefits, burdens, and risks differ by study. Questions about a particular trial should go to its study team and the person’s clinicians.
Disease-modifying treatment and approved treatment
Medical meaning: A disease-modifying treatment is intended to change the underlying disease process, not only manage symptoms. An approved treatment has been reviewed and authorized by a regulatory agency for a particular use.
In everyday language: Supportive care helps with the effects of CMT—such as walking, pain, fatigue, or daily tasks. A disease-modifying treatment would aim at the condition itself. “Promising research,” “tested in a laboratory,” “in a clinical trial,” and “approved for patients” are not interchangeable stages.
CMT4C care currently focuses on managing symptoms, protecting function, and monitoring what changes. As of September 2026, there is no approved disease-modifying treatment specifically for CMT4C. Rehabilitation, bracing, mobility support, orthopedic care, symptom management, and monitoring can still be meaningful care.
One care team, different roles
It is normal for the roles to overlap. A neurologist may identify a mobility concern, a rehabilitation doctor may coordinate the plan, a physical therapist may evaluate movement, an orthopedist may assess the foot or spine, and an orthotist may fit the brace.
The goal is not to collect specialists. The goal is to involve the right people for the needs that actually exist.
Questions families can ask include:
- What problem are we trying to address?
- Which professional is best suited to evaluate it?
- What outcome are we hoping for?
- How will we know whether the plan is helping?
- When should this be reassessed?
A note from CMT Together
We created this guide because medical language can make an already difficult diagnosis feel even more overwhelming. No family should have to pretend they understand a term just because everyone else in the room is using it.
We do not merely point families toward trustworthy medical information. We help families understand it.
If a word or specialist brought you to this page and it still does not make sense, that is useful feedback. Tell us what needs a clearer explanation.
Suggest a term we should explainSources and further reading
This page provides general educational information and does not diagnose CMT, recommend a particular specialist or device, or replace individualized medical advice. Questions about symptoms, testing, treatment, and equipment should be discussed with qualified clinicians who know the person and their medical history.