Charcot-Marie-Tooth neuropathy is a group of inherited nerve diseases that slowly damage the long nerves in the arms and legs. These nerves are called “peripheral nerves.” They carry messages from the brain and spinal cord to the muscles and back again for feeling. In this disease, these nerves work more and more poorly over time, so muscles become weak and thin, and feeling in the feet and hands is reduced. NCBI+1
Charcot-Marie-Tooth neuropathy is a group of inherited nerve diseases that slowly damage the long nerves in the legs and arms. These nerves carry messages that control movement and feeling. When they are damaged, muscles become weak and thin, especially in the feet, lower legs, hands, and forearms. Many people develop high-arched feet, claw toes, foot drop, and a high-stepping “slapping” walk. CMT is also called Charcot-Marie-Tooth disease, hereditary motor and sensory neuropathy, or peroneal muscular atrophy. There is no cure yet, but many treatments can protect mobility, reduce pain, and improve daily life. Wikipedia+2
It is one of the most common inherited nerve disorders in the world. About 1 in 2,500 people are affected. Symptoms usually start in childhood, teenage years, or early adult life and worsen slowly over many years. Most people live a normal life span, but they may have big problems with walking, balance, and hand use. NCBI+2Wikipedia+2
Other names
Charcot-Marie-Tooth neuropathy is known by several other names. These names all describe the same general group of inherited nerve diseases.
One common name is Charcot-Marie-Tooth disease (CMT). This is the standard medical name used today in most books and guidelines. Wikipedia
It is also called Charcot-Marie-Tooth neuropathy, which simply means nerve damage (neuropathy) caused by this condition. Wikipedia+1
Another older name is hereditary motor and sensory neuropathy (HMSN). “Hereditary” means passed down in families; “motor” relates to movement; “sensory” relates to feeling. This name reminds us that both movement and feeling nerves are affected. ARUP Consult
The disease is sometimes called peroneal muscular atrophy. This name comes from the wasting of muscles on the outside of the lower leg (peroneal muscles), which makes the lower legs look thin. Wikipedia+1
A very severe early-onset form may be called Dejerine–Sottas disease (CMT3). This is now usually grouped as one of the types of CMT rather than a separate disease. Wikipedia+1
Types of Charcot-Marie-Tooth neuropathy
Doctors divide CMT into types based on how the nerves are damaged (the insulation vs. the wire) and how the disease is inherited in families.
CMT1 (demyelinating type)
In CMT1, the problem is mainly in the myelin sheath, the “insulating cover” around the nerve fiber. The nerve signal becomes slow. This type is often caused by a duplication (extra copy) of the PMP22 gene. NCBI+2Wikipedia+2CMT2 (axonal type)
In CMT2, the main problem is in the axon, the central “wire” of the nerve, not the myelin. Nerve conduction speeds can be near-normal, but the signal strength is low. Mutations in genes such as MFN2 and NEFL are common causes. Wikipedia+2PMC+2CMT3 (Dejerine–Sottas disease)
This is a rare, very severe, early-onset demyelinating neuropathy. Symptoms often start in infancy or early childhood with marked weakness and very slow nerve conduction. Wikipedia+1CMT4 (autosomal recessive CMT)
CMT4 is usually inherited in a recessive way, meaning both parents carry a faulty gene. It often causes more severe symptoms and can appear in childhood, especially in populations with higher rates of related parents (consanguinity). NCBI+2PMC+2CMTX (X-linked CMT)
CMTX is linked to the X chromosome, most often due to changes in the GJB1 gene (connexin 32). Males usually have more severe symptoms than females. Nerve conduction speeds are in an intermediate range. Wikipedia+1Intermediate CMT (dominant or recessive)
In this group, nerve conduction speeds are between the typical ranges for CMT1 and CMT2. The damage affects both myelin and axons. There are dominant intermediate (CMTDI) and recessive intermediate (CMTRI) forms. Wikipedia+1Other genetic subtypes
Today, more than 100 genes have been connected to CMT and related inherited neuropathies. Each gene change defines a subtype, but the everyday clinical problems are very similar across most types. Charcot-Marie-Tooth Association+2PMC+2
Causes of Charcot-Marie-Tooth neuropathy
The true cause of CMT is genetic change (mutation) in one of many genes needed for healthy peripheral nerves. Below are 20 important cause-related points, written in simple language.
Inherited gene changes from a parent
The main cause is a disease-causing change in a nerve gene that is passed down from one or both parents. If a parent has CMT, there is a significant chance a child will inherit the same gene change. Wikipedia+2Mayo Clinic+2New gene changes (de novo mutations)
Sometimes a child develops CMT even when no one else in the family is known to have it. In this case, a new mutation appears in the child’s DNA by chance. That new mutation can then be passed to future children. Mayo Clinic+1PMP22 gene duplication (CMT1A)
The most common cause of CMT is an extra copy of the PMP22 gene on chromosome 17. This extra copy makes too much PMP22 protein, disturbing myelin and slowing nerve signals. Wikipedia+1PMP22 gene deletion or point mutation
Loss or change of PMP22 can cause other forms of hereditary neuropathy, such as hereditary neuropathy with liability to pressure palsies, which overlaps with CMT. Wikipedia+1MPZ (myelin protein zero) gene mutations
Mutations in the MPZ gene affect another key myelin protein. They can cause demyelinating or intermediate CMT, often with early foot deformities and slowly progressive weakness. Wikipedia+1GJB1 (connexin 32) gene mutations
Changes in the GJB1 gene cause X-linked CMT. This gene makes a gap-junction protein in Schwann cells (myelin-forming cells). Faulty connexin 32 disturbs communication between these cells and the axons. Wikipedia+2PMC+2MFN2 gene mutations (CMT2A)
The MFN2 gene controls a protein important for mitochondria, the “energy factories” in nerve cells. Mutations lead to energy problems in axons and cause a common axonal CMT type called CMT2A. Wikipedia+1NEFL gene mutations
The NEFL gene makes part of the nerve’s “internal skeleton” (neurofilaments). Mutations can weaken axons and lead to CMT2 with early balance and walking problems. Wikipedia+1GDAP1 gene mutations
GDAP1 mutations often cause recessive CMT with early-onset weakness. The protein is linked to mitochondrial function and axon survival, so its loss leads to axonal damage. PMCPRX and other myelin-related gene mutations
Mutations in genes like PRX and others involved in myelin structure cause various CMT4 forms. These lead to severe demyelination, especially in childhood. PMC+1Autosomal dominant inheritance pattern
Many CMT types are autosomal dominant. This means a change in just one copy of a gene is enough to cause disease, so each child of an affected parent has about a 50% chance of inheriting it. PMC+1Autosomal recessive inheritance pattern
Some forms are autosomal recessive. Here, both gene copies must be changed. Parents may be healthy carriers, but when both carry the same faulty gene, a child can be affected. PMC+1X-linked inheritance pattern
In CMTX, the mutation is on the X chromosome. Males (with one X) tend to be more severely affected, while females (with two X chromosomes) may have milder signs or be carriers. Wikipedia+1Mitochondrial dysfunction in axons
Many CMT gene changes disturb mitochondria, the energy units in axons. When mitochondria cannot move or work well, long nerves in the legs and arms slowly degenerate. Wikipedia+1Abnormal protein processing inside Schwann cells
Some gene changes cause proteins to build up wrongly in Schwann cells (myelin cells). This stress damages myelin and secondarily harms axons, producing chronic neuropathy. PMC+1Disrupted transport of materials along the axon
Many mutant proteins interfere with transport of nutrients and cell parts along the long length of the nerve fiber. When transport is blocked, the far ends of the nerves (feet, hands) are damaged first. PMC+1Family history with variable expression
The same gene change can cause mild symptoms in one person and severe disability in another. This pattern, seen across families, still reflects genetic cause but with different expression. National Organization for Rare Disorders+1Gene changes plus environmental stress on nerves
The gene mutation is the core cause, but outside factors such as repeated ankle injuries, poor footwear, or nerve-toxic medicines can put extra stress on already fragile nerves. Cleveland Clinic+1Other neuropathies on top of CMT
Diabetes, kidney failure, vitamin deficiencies, or alcohol-related neuropathy do not cause CMT, but if a person with CMT also has these, the nerve damage can become worse and symptoms more severe. Mayo Clinic+1Lack of a known gene in some patients (yet genetic)
In a small number of people, no known gene change is found even with testing, but the disease still runs in families. Doctors think unknown genes or gene regions are the cause in these cases. PMC+1
Symptoms of Charcot-Marie-Tooth neuropathy
Symptoms usually start in the feet and legs and later involve the hands. They progress slowly over many years.
Weakness in feet and ankles
The earliest and most common symptom is weakness in the small muscles of the feet and ankles. People may have trouble standing on their toes, going up stairs, or keeping the foot lifted. Mayo Clinic+2PFM Journal+2Foot drop and high-stepping gait
Weak muscles that lift the front of the foot cause “foot drop.” The person may lift the knees high and slap the foot down when walking, known as a high-stepping gait. Wikipedia+2ScienceDirect+2Frequent tripping and falls
Because the toes drag and the ankles are weak, people with CMT often trip on small objects or uneven ground and may fall more than others, especially when tired. Mayo Clinic+1High arches (pes cavus)
Many patients develop very high foot arches due to imbalance between weak and strong muscles. This can make shoes painful and lead to calluses and ankle sprains. Wikipedia+2Romanian J. Morphology & Embryology+2Curled toes (hammertoes or claw toes)
Toes can curl or claw because small foot muscles are weak while other muscles pull more strongly. These deformities can rub inside shoes and create pain and skin problems. Wikipedia+2Romanian J. Morphology & Embryology+2Thin, wasted lower legs (“stork legs”)
Over time, muscles below the knees become thin and wasted, giving the legs a “stork-like” or inverted champagne bottle shape. The upper legs often stay stronger. Romanian J. Morphology & Embryology+2Patient Info+2Loss of feeling in feet and legs
Sensory nerves are also affected. People may feel numbness, tingling, or burning in the feet and lower legs. They may not notice small injuries or temperature changes. Wikipedia+2Mayo Clinic+2Pain in feet, legs, or hands
Some people develop nerve pain or deep aching in the muscles. The pain can be burning, shooting, or cramping, and may worsen with long walking or standing. PMC+1Weakness in hands and fingers
As the disease advances, it often moves up the legs and later affects the hands. People may struggle with buttons, zippers, handwriting, or opening jars. Wikipedia+2PMC+2Loss of feeling in hands and fingers
Numbness and reduced touch in the fingers can make it harder to feel small objects, use tools safely, or notice cuts and burns on the hands. PMC+1Reduced or absent tendon reflexes
When a doctor tests the knee or ankle reflexes with a hammer, the responses are often weak or absent. This is a typical sign of peripheral neuropathy in CMT. Romanian J. Morphology & Embryology+2Wiley Online Library+2Balance problems
Because of weakness and loss of feeling, balance can be poor, especially in the dark or on uneven surfaces. People may feel unsteady or sway when standing with feet together. PMC+2Wiley Online Library+2Spinal curvature (scoliosis)
Some patients, especially those with early-onset CMT, develop sideways curvature of the spine (scoliosis) due to muscle imbalance and long-term postural changes. Hospital for Special Surgery+2Orthobullets+2Fatigue and reduced endurance
Walking and standing take more effort when the muscles are weak. People often tire quickly, need frequent rests, and may avoid long distances. PMC+2Cleveland Clinic+2Rare breathing or swallowing problems
In severe or advanced cases, the nerves to breathing or swallowing muscles can be affected, leading to shortness of breath or trouble swallowing. This is uncommon but important to recognize. National Organization for Rare Disorders+2Mayo Clinic+2
Diagnostic tests for Charcot-Marie-Tooth neuropathy
Doctors use history, family details, and many tests to diagnose CMT and to rule out other nerve diseases.
Physical exam tests
General neurological examination
The doctor looks at how you walk, move, feel, and balance. They test strength, sensation, reflexes, and coordination. This first step is key for suspecting CMT, because it shows the typical pattern: distal weakness, sensory loss, and absent ankle reflexes. PMC+2Romanian J. Morphology & Embryology+2Foot and ankle inspection
The doctor closely inspects the feet for high arches, hammertoes, calluses, and ankle deformities. These visible changes strongly suggest a long-lasting neuropathy such as CMT. ResearchGate+2Romanian J. Morphology & Embryology+2Gait observation
Watching how a person walks helps the doctor see foot drop, high-stepping gait, frequent tripping, or use of wide-based steps to keep balance. These signs are typical in CMT. Orthobullets+2Patient Info+2Spine and posture assessment
The doctor examines the spine from behind and the side to look for scoliosis or other spinal curvatures, common in some CMT patients, especially children. Hospital for Special Surgery+1Family history review
Asking about relatives with similar foot problems, walking issues, or known CMT is part of the exam. A clear family pattern strongly supports the diagnosis of hereditary neuropathy. ScienceDirect+2ARUP Consult+2
Manual bedside tests
Manual muscle testing of feet and ankles
The doctor pushes against the foot and asks you to resist in different directions. Weakness of ankle dorsiflexion (lifting the foot) and eversion (turning it out) is common in CMT and helps measure severity. PMC+2Romanian J. Morphology & Embryology+2Manual muscle testing of hands
The doctor tests grip strength and small hand muscles by asking you to squeeze, spread the fingers, or pinch. Weakness of intrinsic hand muscles suggests that neuropathy has reached the upper limbs. PMC+2PFM Journal+2Heel and toe walking test
You may be asked to walk on your heels or toes. People with CMT often cannot walk on heels because of foot drop, and may struggle to walk on toes due to calf weakness. Orthobullets+2Patient Info+2Romberg balance test
For this test, you stand with feet together, arms by your sides, first with eyes open and then closed. Increased swaying or loss of balance when eyes are closed suggests sensory loss in the legs, as seen in CMT. PMC+2Wiley Online Library+2Vibration and light-touch testing
Using a tuning fork or light touch with cotton or a monofilament, the doctor tests feeling in feet and hands. Reduced or absent vibration and touch sense is typical of sensory neuropathy. PMC+2Romanian J. Morphology & Embryology+2
Lab and pathological tests
Basic blood tests to rule out other neuropathies
Blood tests for blood sugar, vitamin B12, thyroid function, kidney and liver function are done to exclude other causes of neuropathy, such as diabetes or vitamin deficiency, which can mimic or worsen CMT. PMC+2ClinMed Journals+2Genetic blood testing for CMT genes
A blood sample is sent to a lab to look for known CMT mutations, such as PMP22 duplication, MPZ, GJB1, MFN2, and others. Finding a matching mutation confirms the exact genetic type and helps with family planning. Mayo Clinic+2PMC+2Targeted or panel gene sequencing
When simple tests are negative, next-generation sequencing panels can check many CMT-related genes at once. This increases the chance of finding the cause, especially in complex or rare cases. PMC+2PMC+2Nerve biopsy (usually sural nerve)
In difficult cases where genetic tests do not give an answer or another disease is suspected, a small piece of nerve from the lower leg may be removed and studied under the microscope. Typical CMT changes include loss of large fibers and “onion bulb” formations from repeated demyelination and remyelination. Today this test is used less often. PMC+1
Electrodiagnostic tests
Nerve conduction studies (NCS)
NCS measure how fast and how strongly electrical signals travel along the nerves. In CMT1, speeds are very slow (demyelinating); in CMT2, speeds may be near-normal but the response size is small. These patterns help classify the type of CMT. NCBI+2ScienceDirect+2Electromyography (EMG)
EMG uses a fine needle in the muscles to record electrical activity. In CMT, EMG shows signs of chronic denervation and re-innervation, confirming that muscles are weak because of nerve damage, not primary muscle disease. Muscular Dystrophy Association+2ClinMed Journals+2Combined electrodiagnostic testing (electromyoneurography)
Sometimes nerve conduction and EMG are done together as one study. This gives a full picture of both nerve conduction and muscle response and is very helpful in separating CMT from other neuromuscular disorders. Wikipedia+2ClinMed Journals+2
Imaging tests
X-rays of feet and ankles
Plain X-rays can show high arches, hammertoes, misaligned joints, and other bone changes caused by long-term muscle imbalance in CMT. This helps surgeons plan supportive or corrective procedures if needed. Hospital for Special Surgery+2Orthobullets+2Spine X-rays or MRI
Imaging of the spine can detect scoliosis or other spinal deformities related to muscle weakness. This is important for monitoring children and teenagers with early-onset CMT. Orthobullets+2mansapublishers.com+2Ultrasound or MRI of nerves (neuromuscular imaging)
In some centers, ultrasound or MRI is used to look at peripheral nerves directly. Thickened, enlarged nerves can be seen in some CMT types, and imaging adds structural information to the functional data from NCS and EMG. Wikipedia+2ClinMed Journals+2
Non-Pharmacological (Non-Drug) Treatments for CMT Neuropathy
Below are evidence-based non-drug treatments. Most people use a mix of several of them.
Individualized Physical Therapy Exercise Program
A physical therapist designs a safe exercise plan to keep muscles as strong and flexible as possible. It usually includes gentle stretching, strengthening, and balance work. The goal is to slow loss of strength, prevent tight muscles, and keep joints moving well. Regular PT can improve walking, reduce fatigue, and help you stay independent. Exercise must be “just enough but not too much” to avoid over-tiring weak muscles, so programs are carefully adjusted to each person. Charcot-Marie-Tooth Disease+2nhs.uk+2Stretching and Range-of-Motion Exercises
Daily stretching of calves, ankles, toes, wrists, and fingers helps keep tendons and muscles from shortening. In CMT, weakness and imbalance can easily lead to contractures (permanent stiffness). Slow, gentle stretches held for 20–30 seconds are usually used. The purpose is to protect joint movement and reduce pain. The main mechanism is mechanical: stretching lengthens tight soft tissues and reduces abnormal pull on joints and bones. nhs.uk+1Progressive Resistance (Strength) Training
Light resistance training, planned by a therapist, can strengthen muscles that are still working and help them support weaker areas. Studies show that moderate-intensity strength training can improve movement, balance, and endurance in CMT without harming the nerves when done correctly. The purpose is to maintain function and slow disability. The mechanism is simple: repeated muscle work causes muscle fibers to adapt and grow stronger, even if nerve signals are partly reduced. PMC+2ScienceDirect+2Balance and Gait Training
Many people with CMT have poor balance and frequent falls. Therapists use balance boards, step training, and walking drills to retrain the brain and muscles. The purpose is to make walking safer and more efficient. Mechanically, repeated practice helps build new movement patterns, improves coordination, and teaches people how to compensate for weak ankle and foot muscles. This can reduce fall risk and improve confidence. PMC+2PMC+2Hydrotherapy (Water-Based Exercise)
Hydrotherapy means exercising in a warm pool under supervision. Water supports body weight, so weak legs do not have to carry the full load. People can practice walking, stretching, and gentle strengthening with less pain. The purpose is to improve balance, gait, and comfort. The mechanism is buoyancy and gentle resistance from water, which allows safe movement without heavy impact on joints or tired muscles. Physiopedia+2nhs.uk+2Aerobic Conditioning (Walking, Cycling, Swimming)
Low-impact aerobic exercise such as brisk walking with aids, stationary cycling, or swimming helps the heart, lungs, and overall stamina. In CMT, it also supports remaining muscles and helps manage weight. The purpose is to improve energy and reduce fatigue during daily activities. Aerobic exercise works by training the cardiovascular system to deliver oxygen more efficiently, which supports weak muscles and reduces the feeling of heavy legs. Charcot-Marie-Tooth Association+2CMT Australia+2Orthotic Devices (Ankle-Foot Orthoses and Braces)
Ankle-foot orthoses (AFOs), foot braces, and other supports hold the foot in a better position and prevent it from dropping. This can stop tripping, improve walking speed, and reduce energy use. Orthotics also help correct or slow deformities such as high arches. The mechanism is external support: the brace replaces some of the strength lost in weak muscles and better aligns the joints. Hanger Clinic+3Charcot-Marie-Tooth Association+3Muscular Dystrophy Association+3Special Footwear and Insoles
Custom shoes, cushioned insoles, and arch supports spread pressure more evenly under the foot and accommodate deformities. They reduce pain from high arches or claw toes and improve stability. The purpose is to make walking safer and more comfortable. Mechanically, good footwear changes how forces pass through the foot, protecting skin, joints, and bones from overload. Charcot-Marie-Tooth News+2Charcot-Marie-Tooth Association+2Occupational Therapy (OT)
Occupational therapists help with hand weakness, poor grip, and difficulty with daily tasks such as writing, dressing, or opening jars. They may provide hand splints, special grips, and teach easier ways to do activities. The purpose is to maintain independence at home, school, or work. OT works by adapting tools and techniques so that less strength and fine control are needed. Muscular Dystrophy Association+3Charcot-Marie-Tooth Disease+3Charcot-Marie-Tooth Association+3Assistive Devices for Hands and Daily Living
Simple devices such as button hooks, zipper pulls, thick pen grips, reachers, electric can-openers, and adapted keyboards can make daily life much easier. Their purpose is to reduce strain and frustration while protecting joints from overuse. The mechanism is mechanical advantage: tools enlarge handles, reduce required force, or change leverage so that weak muscles can still do the task. Charcot-Marie-Tooth Disease+2Mayo Clinic+2Mobility Aids (Canes, Walkers, Wheelchairs, Scooters)
Canes, trekking poles, walkers, and wheelchairs can reduce fall risk and let people move longer distances with less fatigue. Using a mobility aid does not mean “giving up”; it often allows more independence and activity. The mechanism is extra support and larger base of support, which helps compensate for weak ankles and poor balance. Charcot-Marie-Tooth News+2nhs.uk+2Respiratory and Postural Training (for Selected Patients)
A small number of people with certain CMT types develop breathing or spine problems. Breathing exercises, posture work, and sometimes non-invasive ventilation can help. The purpose is to keep lungs working well and protect from chest infections. Mechanistically, training improves chest wall movement and posture, allowing better air flow and oxygen exchange. PMC+1Pain Psychology and Cognitive-Behavioral Therapy (CBT)
Chronic nerve pain can affect sleep, mood, and coping. Pain psychology and CBT teach skills like relaxation, pacing, and changing unhelpful thought patterns. The purpose is to reduce the emotional suffering from pain and improve daily function, even when some pain remains. The mechanism is brain-based: thoughts and emotions influence how pain signals are processed and felt. PMC+1Fatigue Management and Energy-Conservation Training
Therapists teach people to plan their day, rest before exhaustion, and use tools or aids to save energy. Simple changes such as sitting to do tasks, breaking jobs into smaller parts, and scheduling heavy activities when you have the most energy can help. The mechanism is behavioral: avoiding “boom and bust” patterns that worsen weakness and fatigue. PMC+1Fall-Prevention and Home Modifications
Handrails, grab bars, non-slip mats, good lighting, and removing loose rugs can greatly cut fall risk. For people with CMT, weak ankles and numb feet make falls more likely. The purpose is safety. Mechanically, changing the environment reduces hazards and gives more places to hold for support. PMC+1Nutrition and Weight Management Counseling
Extra body weight puts more stress on weak feet and ankles and can worsen pain and fatigue. A dietitian can help create a balanced meal plan that supports a healthy weight, strong bones, and good heart health. The mechanism is straightforward: less weight means less mechanical load on joints and better metabolic health, which supports exercise. Charcot-Marie-Tooth Association+1Genetic Counseling
Because CMT is inherited, genetic counseling helps families understand inheritance patterns, testing options, and reproductive choices. The purpose is informed decision-making and emotional support. Mechanistically, it does not change the disease but can reduce anxiety and help people plan for the future. Wikipedia+1Patient Education and Self-Management Programs
Education about CMT, treatment options, safe exercise, and foot care helps people become active partners in their care. Self-management courses can teach skills for goal-setting, problem-solving, and communicating with healthcare teams. The mechanism is empowerment: informed patients are more likely to follow beneficial routines and avoid harmful behaviors. CMTAustralia+1Vocational Rehabilitation and School/Work Accommodations
Specialists can suggest workplace or school changes such as ergonomic desks, flexible hours, or voice-to-text software. The purpose is to help people keep working or studying despite physical limits. Mechanistically, changing tasks and tools reduces physical strain and fatigue so that remaining nerve function is used more efficiently. PMC+1Peer Support Groups and Counseling
Living with a chronic genetic disease can be emotionally heavy. Support groups and counseling offer a place to share experiences, learn coping strategies, and feel less alone. While they do not change nerve damage, they strongly affect mental health and quality of life, which in turn can improve adherence to exercise and medical care. CMTAustralia+1
Drug Treatments for CMT-Related Symptoms
Important: There is no FDA-approved drug that cures or stops CMT itself yet. Drugs mainly treat neuropathic pain, muscle symptoms, mood, and sleep. Doses below are typical adult ranges based on labels and guidelines; real prescriptions must be individualized by a doctor. PMC+2Springer Link+2
Gabapentin
Gabapentin is an anti-seizure medicine widely used for neuropathic pain, including nerve pain similar to that seen in CMT. It is usually started at low doses (for example 300 mg per day) and slowly increased, often up to 1800 mg per day in divided doses in adults, depending on response and kidney function. It works by binding to calcium channels in nerve cells and calming overactive pain pathways. Side effects can include sleepiness, dizziness, and swelling in the legs. FDA Access Data+2NCBI+2Pregabalin
Pregabalin is related to gabapentin and is also approved for several neuropathic pain conditions. Typical adult doses for neuropathic pain are around 150–300 mg per day, divided into two or three doses, adjusted for kidney function. It reduces abnormal firing in pain nerves by binding to specific calcium channel subunits. Common side effects are dizziness, sleepiness, weight gain, and swelling. It can help CMT patients who have burning or shooting pain in their feet and legs. Drugs.com+3FDA Access Data+3FDA Access Data+3Duloxetine
Duloxetine is an SNRI antidepressant that is approved for diabetic peripheral neuropathic pain, fibromyalgia, and chronic musculoskeletal pain. For neuropathic pain, adults are often treated with 60 mg once daily, sometimes starting at 30 mg to improve tolerance. It increases serotonin and norepinephrine in the spinal cord, which can dampen pain signals. Side effects include nausea, dry mouth, sweating, and sometimes increased blood pressure. It can help CMT-related neuropathic pain even though this use is off-label. Psychopharmacology Institute+4FDA Access Data+4FDA Access Data+4Amitriptyline
Amitriptyline is a tricyclic antidepressant (TCA) used at low doses for neuropathic pain and sleep problems. Typical night-time doses for pain might range from 10–75 mg, with doctors starting low and going up slowly. It blocks reuptake of serotonin and norepinephrine and also acts on other receptors, reducing pain signal transmission. Side effects include dry mouth, constipation, drowsiness, and sometimes heart rhythm changes, so careful monitoring is needed. PMC+2Springer Link+2Nortriptyline
Nortriptyline is another TCA with a similar role to amitriptyline but often slightly better tolerated. Low night-time doses are used and slowly increased. It helps by enhancing descending pain-inhibiting pathways in the spinal cord. Side effects can include dry mouth, constipation, dizziness, and changes in heart rhythm, so it is not suitable for everyone. PMC+1Venlafaxine
Venlafaxine is an SNRI used mainly for depression and anxiety but sometimes used for neuropathic pain. Doses vary widely (often 75–225 mg/day in divided doses). Its mechanism is similar to duloxetine: it increases norepinephrine and serotonin, which can reduce pain sensitivity. Side effects may include nausea, sweating, increased blood pressure, and sleep changes. Evidence suggests SNRIs as a group can help neuropathic pain, although duloxetine is better studied. PMC+2Springer Link+2Carbamazepine
Carbamazepine is an older anti-seizure drug used for certain nerve pain conditions like trigeminal neuralgia. It blocks voltage-gated sodium channels in neurons, stabilizing overactive nerve membranes. Doses and blood levels must be monitored carefully because of risk of serious side effects like low blood counts, liver problems, and drug interactions. In CMT, it may be used in selected patients when other neuropathic pain agents fail, under specialist supervision. PMC+1Oxcarbazepine
Oxcarbazepine is related to carbamazepine and sometimes used for neuropathic pain. It also blocks sodium channels but may have a slightly better side-effect profile. Doctors start at low doses and increase carefully. Side effects include low sodium levels, dizziness, and tiredness. It is generally considered a second-line option after pregabalin, gabapentin, duloxetine, or TCAs. Charcot-Marie-Tooth Association+2PMC+2Lamotrigine
Lamotrigine is an anti-seizure medicine sometimes used for difficult neuropathic pain. It stabilizes neuronal membranes by blocking sodium channels and reducing glutamate release. It must be increased very slowly to reduce the risk of serious skin reactions. In CMT, it is usually considered only after first-line treatments have failed. PMC+1Topical Lidocaine 5% Patch
Lidocaine patches are placed over painful areas for limited hours each day. The drug stays mostly in the skin and blocks sodium channels in small peripheral nerves, reducing local pain signals with fewer whole-body side effects. They are especially helpful when pain is localized to a small area of the foot. Skin irritation and numbness are the main side effects. Springer Link+1Topical Capsaicin (Cream or High-Dose Patch)
Capsaicin, derived from chili peppers, depletes substance P and other pain transmitters from sensory nerve endings in the skin. Repeated use can reduce burning pain over time. High-concentration patches are applied in clinics for a set period under medical supervision. Initial burning and redness are common, but systemic side effects are rare. Springer Link+1NSAIDs (e.g., Ibuprofen, Naproxen)
Non-steroidal anti-inflammatory drugs do not treat neuropathic pain well, but they can help with joint and muscle pain from abnormal posture, overuse, or surgery. They block cyclo-oxygenase enzymes and reduce prostaglandin production, which lowers inflammation and pain from tissues like joints and tendons. They can irritate the stomach and affect kidneys, so long-term use needs medical guidance. Muscular Dystrophy Association+1Paracetamol/Acetaminophen
Acetaminophen is often used for mild musculoskeletal pain or headaches in CMT. Its exact mechanism is complex but mainly acts in the central nervous system to reduce pain and fever. It does not help neuropathic pain by itself but can be combined with other drugs. The main risk is liver damage at high doses, so daily limits must not be exceeded. PMC+1Baclofen
Baclofen is a muscle relaxant that acts on GABA-B receptors in the spinal cord. It is sometimes used when people with CMT develop spasticity or severe muscle cramps, which is more common in some overlapping conditions. It reduces excessive muscle tone but can cause sleepiness and weakness, so doses must be carefully balanced. PMC+1Tizanidine
Tizanidine is another muscle relaxant used in spasticity. It works as an α2-adrenergic agonist, decreasing excitatory signals in the spinal cord. It may help patients with painful muscle tightness or nocturnal cramps. Side effects include low blood pressure, dry mouth, and drowsiness, and liver function needs monitoring. PMC+1Clonazepam (for Severe Night Cramps or Tremor)
Clonazepam is a benzodiazepine used off-label for troublesome night cramps or tremor in some neuromuscular disorders. It enhances GABA activity, calming the nervous system and muscle over-activity. Because it can cause dependence, daytime sleepiness, and falls, it is usually reserved for short-term or specialist-managed use. PMC+1Short-Term Opioids (e.g., Tramadol) – With Extreme Caution
Opioids such as tramadol may be considered for short periods when neuropathic pain is severe and not controlled by other drugs. Tramadol has both opioid and SNRI-like actions. However, opioids carry serious risks: dependence, tolerance, constipation, and dangerous breathing depression. Current guidelines recommend using them only as last-line options and at the lowest effective dose. PMC+2Springer Link+2Topical NSAID Gel (e.g., Diclofenac Gel)
Topical diclofenac gels deliver anti-inflammatory medicine directly to painful joints or tendons in the foot or ankle. Systemic absorption is much lower than oral NSAIDs, so they may be safer for some people. They help with mechanical pain from deformities or surgery, not with nerve pain itself. Charcot-Marie-Tooth Association+1Low-Dose Antidepressants for Mood and Pain Modulation (e.g., SSRIs)
Some people with CMT develop depression or anxiety related to chronic pain and disability. Treating mood with drugs such as SSRIs can indirectly reduce pain perception and improve coping. The main mechanism is normalizing brain chemicals involved in mood and pain processing. Choice of drug depends on the individual and other medicines they take. NCBI+1Sleep Aids (e.g., Carefully Chosen Agents for Insomnia)
Poor sleep worsens pain and fatigue. Sometimes short-term use of sleep medicines is needed, especially while adjusting to neuropathic pain drugs. These act on brain receptors to promote sleep but can cause dependence or daytime drowsiness, so behavioral sleep strategies are always preferred first. PMC+1
Dietary Molecular Supplements
Evidence for supplements in CMT is limited; most data come from general neuropathy or small studies. Always discuss supplements with a doctor, because some vitamins (like too much B6) can worsen neuropathy. PMC+1
Alpha-Lipoic Acid (ALA) – An antioxidant involved in energy production. It may help reduce oxidative stress in nerves and has some evidence in diabetic neuropathy. Typical doses in studies are around 600 mg/day, but long-term safety in CMT is not well defined. PMC
Acetyl-L-Carnitine – Supports mitochondrial energy production and may protect nerve fibers. Doses in research often range from 500–2000 mg/day, divided. It may modestly improve nerve pain or function, but results are mixed. PMC+1
Coenzyme Q10 (CoQ10) – A key part of mitochondrial energy production and an antioxidant. Some neuromuscular patients use 100–300 mg/day hoping to support muscle endurance, though strong CMT-specific trials are lacking. PMC+1
Omega-3 Fatty Acids (Fish Oil) – EPA and DHA have anti-inflammatory effects and may support nerve membrane health. Doses around 1–3 g/day are common for heart health; their specific benefit in CMT is uncertain but they may help general well-being. Charcot-Marie-Tooth Association+1
Vitamin D – Important for bone strength and muscle function. Many people with limited mobility have low vitamin D. Supplementation is usually based on blood levels and may range from 800–2000 IU/day or more under medical supervision. Charcot-Marie-Tooth Association+1
Vitamin B12 – Essential for healthy myelin and nerve function. Deficiency can cause neuropathy on its own. Supplement doses vary widely; injections or high-dose tablets may be needed if levels are low. Testing before long-term use is recommended. PMC+1
Balanced B-Complex (with Controlled B6) – B1, B2, B3, and B12 support nerve metabolism, but high doses of B6 can actually damage nerves. If used, B6 doses must stay within safe limits, and any new numbness should be reported. PMC+1
Vitamin C (Ascorbic Acid) – High-dose vitamin C was tested as a possible disease-modifying treatment in CMT1A, but large trials did not show clear benefit. Some people still use moderate doses (for example 500–1000 mg/day) as an antioxidant, but expectations should be cautious. PMC+1
Magnesium – May help with muscle cramps and general muscle relaxation. Typical oral doses are 200–400 mg/day, adjusted to avoid diarrhea. Evidence in CMT is limited but it is commonly used in neuromuscular conditions. PMC+1
Curcumin (Turmeric Extract) – Has anti-inflammatory and antioxidant properties. Small studies in other conditions suggest it might reduce pain and inflammation, but its role in CMT is unknown. Many products have low absorption; “enhanced bioavailability” forms are sometimes used. PMC+1
Immunity-Booster / Regenerative / Stem-Cell-Related Approaches
For inherited CMT, immune-boosting or stem-cell drugs are not standard treatments. Most of these approaches are experimental or used mainly in other types of neuropathy. They should only be considered in clinical trials or under expert supervision.
High-Dose Vitamin C Trials (CMT1A)
Vitamin C was tested as a potential disease-modifying therapy because it affects myelin protein production in animal models. Human trials showed it was safe but did not clearly slow disease. It is therefore not recommended as a primary treatment, but it taught researchers important lessons about CMT biology. PMC+1Neurotrophic Factors (e.g., Neurotrophin-3) – Experimental
Neurotrophic factors are natural proteins that support nerve survival and regrowth. Experimental studies have looked at giving these factors to improve nerve function in hereditary neuropathies. So far, results are early and not ready for routine use. The idea is to nourish damaged axons and help remyelination, but delivery and safety remain challenges. PMC+1Gene-Targeted Therapies (Future Direction)
Because CMT is genetic, researchers are exploring gene-silencing, gene-replacement, and genome-editing strategies, especially for PMP22-related forms. These use viral vectors or other tools to correct or quiet faulty genes. At present, this is only in trials or pre-clinical work, but it is one of the most promising regenerative directions for the future. PMC+1Stem-Cell-Based Approaches – Research Stage
Some labs are studying stem cells that can become Schwann cells or support nerve repair. The idea is that transplanted cells might help rebuild myelin or release helpful growth factors. However, there are no approved stem-cell treatments for CMT, and “stem cell clinics” offering cures are not evidence-based and can be unsafe. PMC+1Immune Therapies (e.g., IVIG, Steroids) for Misdiagnosed or Mixed Cases
Immune-modulating treatments like IVIG and steroids are effective in some acquired neuropathies (such as CIDP), not in pure hereditary CMT. Sometimes people have both an immune neuropathy and CMT, or are misdiagnosed at first. In such special cases, immune therapy may be used by specialists, but it is not a general CMT treatment. PMC+1Clinical Trials of New Small-Molecule Drugs
Several investigational drugs aim to correct specific molecular problems in CMT (for example, modulating PMP22 expression or improving mitochondrial function). These are only available in clinical trials. Joining a trial can contribute to science and sometimes provide early access to promising therapies, but safety and long-term benefit are still being studied. PMC+1
Surgeries for CMT (Key Procedures)
Surgery does not cure CMT, but it can correct serious deformities and improve walking and pain when braces and therapy are not enough.
Foot Osteotomy (Bone Re-Shaping)
In an osteotomy, the surgeon cuts and repositions bones in the foot to correct severe deformities, such as high arches or flat feet. This helps rebalance weight, improve alignment, and reduce pressure points. After surgery, the foot is put in a cast for several weeks until bones heal. The main goal is a more stable, plantigrade (flat on the ground) foot that is easier to brace and less painful. nhs.uk+2PubMed+2Arthrodesis (Joint Fusion)
Arthrodesis fuses certain joints, often in the back of the foot, to create a stable, pain-free platform for walking. It is used when joints are severely deformed or unstable. Fusion removes motion at the problem joints but can greatly improve comfort and function. In CMT, it may be reserved for rigid deformities when softer procedures are not enough. nhs.uk+2enmc.org+2Tendon Transfer Procedures
Tendon transfers move working tendons to replace weak functions, such as transferring a stronger tendon to help lift the foot (correcting foot drop). This can reduce reliance on AFOs and improve gait quality. The mechanism is biomechanical: redirecting muscle pull to restore more balanced forces around the ankle and foot. www.elsevier.com+2enmc.org+2Plantar Fascia Release and Soft-Tissue Surgery
Tight soft tissues under the foot and at the Achilles tendon can worsen cavovarus deformities. Plantar fascia release and tendon lengthening procedures relieve tension, allowing the foot to flatten more normally and decreasing pain. These are often combined with bone procedures in a “package” of surgeries. PubMed+2enmc.org+2Corrective “Package” Foot and Ankle Reconstruction
Many people need a combination of soft-tissue releases, tendon transfers, and osteotomies in one staged surgery. The aim is to achieve a more balanced, plantigrade foot that can fit in shoes and braces, reduce pain, and delay or avoid more drastic fusions. A multidisciplinary team and careful rehab are essential for best results. Charcot-Marie-Tooth Association+2jfootankle.com+2
Prevention and Risk-Reduction
You cannot prevent the genetic cause of CMT, but you can reduce complications and slow disability:
Protect your feet with good shoes and regular podiatry.
Start physical therapy and stretching early and keep it regular.
Use braces or aids when recommended to prevent falls and joint damage.
Keep a healthy weight to reduce stress on weak feet and ankles.
Avoid smoking, which harms blood flow to nerves.
Control other health problems (like diabetes) that can worsen neuropathy.
Avoid neurotoxic drugs when possible (your neurologist can advise).
Make your home safe with good lighting, grab bars, and non-slip floors.
Treat pain and mood problems early to stay active and engaged.
Stay connected with a CMT clinic or specialist for regular review. nhs.uk+2PMC+2
When to See a Doctor
You should see a doctor (ideally a neurologist who knows about CMT) when:
You notice new weakness, especially sudden changes, in your feet, legs, hands, or arms.
Your walking becomes more unsteady or you start falling more often.
Pain, numbness, or burning in your feet or hands becomes hard to control.
You notice new deformities in your feet, toes, or spine.
Braces or shoes suddenly stop working well or cause skin problems.
You have trouble breathing, swallowing, or speaking (emergency evaluation).
You develop severe mood changes, depression, or anxiety linked to your condition.
Regular follow-up visits allow early adjustments in braces, exercise, pain medicine, and screening for new research trials. nhs.uk+2CMTAustralia+2
What to Eat and What to Avoid
Eat a balanced diet rich in fruits, vegetables, whole grains, and lean protein to support muscle and nerve health.
Eat foods with healthy fats (fish, nuts, seeds, olive oil) to support heart and brain function.
Eat enough calcium and vitamin D (dairy or fortified alternatives, leafy greens) to keep bones strong.
Eat regular small meals to maintain energy and avoid big energy crashes. Charcot-Marie-Tooth Association+1
Avoid very high-sugar and ultra-processed foods, which can promote weight gain and inflammation.
Avoid excessive alcohol, which can further damage nerves.
Avoid megadose supplements unless prescribed; some vitamins (like high-dose B6) may worsen neuropathy. PMC+1
Limit very salty and fatty fast foods to protect heart and kidney health, especially if taking long-term medicines.
Limit caffeine late in the day if neuropathic pain or medicines are already disturbing your sleep.
Discuss any herbal or “nerve tonic” products with your doctor first to avoid interactions with prescribed drugs. Charcot-Marie-Tooth Association+2PMC+2
Frequently Asked Questions
Is Charcot-Marie-Tooth disease curable?
No. CMT is a lifelong genetic neuropathy with no cure at present. However, with good rehab, braces, pain control, and sometimes surgery, many people lead active, productive lives. Research on gene therapy and other disease-modifying treatments is ongoing, and clinical trials are exploring new options. PMC+2Wikipedia+2Does CMT always get worse?
CMT is usually slowly progressive, meaning changes happen over many years. Some people remain mildly affected, while others develop more serious weakness and deformities. Early rehab, orthotics, and sensible lifestyle choices can help preserve function for longer. Wikipedia+1Can exercise make my CMT worse?
Appropriate, supervised exercise is generally helpful, not harmful. The key is moderate intensity and avoiding extreme fatigue or heavy resistance on very weak muscles. Working with a therapist who knows CMT is important. PMC+2CMT Australia+2Will I need a wheelchair?
Some people use a wheelchair full-time, others only for long distances, and many never need one. The goal is independence, not avoiding aids. Using braces, canes, or a wheelchair when needed can help you stay active and safe. Charcot-Marie-Tooth News+2nhs.uk+2Is CMT only in the feet?
It often starts in the feet and lower legs but can later affect hands and forearms. Some types can also cause scoliosis or rarely breathing problems. Regular review with a neurologist helps monitor for changes. Wikipedia+1Can children with CMT do sports?
Many children and teens with CMT can join sports with some adjustments, such as braces, choosing lower-impact activities, and taking regular rest. Swimming and cycling are often well tolerated. A pediatric PT can guide safe choices. Charcot-Marie-Tooth Disease+2Charcot-Marie-Tooth Association+2Are there foods that cure CMT?
No food or vitamin can cure CMT. A healthy diet mainly supports overall health, weight control, bones, and energy so you can stay as active as possible. Supplements should only be used as part of a full plan agreed with your doctor. Charcot-Marie-Tooth Association+2PMC+2Is surgery right for everyone with CMT?
No. Surgery is usually considered only when deformities cause pain, braces no longer work, or walking becomes very difficult. Decisions are individualized after careful assessment by an orthopedic surgeon familiar with CMT. Charcot-Marie-Tooth Association+2nhs.uk+2Do braces weaken my muscles?
Braces support weak muscles and joints; they do not usually cause additional weakness. In fact, by preventing falls and contractures, braces can help you stay more active, which is better for muscles overall. Charcot-Marie-Tooth Association+2Muscular Dystrophy Association+2Can CMT affect my breathing or heart?
Most people with CMT do not have major breathing or heart problems from the disease itself, but some rare types can. Any new shortness of breath, chest pain, or night-time breathing issues should be checked quickly by a doctor. PMC+1Should my family members be tested?
Because CMT is genetic, family members may want genetic counseling and, in some cases, testing. The decision is personal and depends on age, symptoms, and planning needs. A genetics team can explain options and implications. Wikipedia+1Can I have children if I have CMT?
Yes. Many people with CMT have children. A genetic counselor can explain the chance of passing the condition on and talk about reproductive choices, including prenatal or pre-implantation genetic testing in some situations. Wikipedia+1Why is my pain so bad even though my muscles only look mildly weak?
Neuropathic pain comes from damaged or overactive nerves, not only from how strong muscles look. Nerves can send strong pain signals even when weakness seems mild. This is why specific nerve-pain medicines and non-drug strategies are often needed. Charcot-Marie-Tooth Association+2PMC+2Are clinical trials worth considering?
Clinical trials are essential for finding better treatments. Taking part can give access to new therapies and expert care, but there are also risks and no guarantee of benefit. CMT foundations and specialist centers often list current trials and can help decide if one fits you. PMC+1What is the most important thing I can do right now?
For most people, the best steps are: stay physically active with safe exercise, protect and support your feet with good shoes and braces, manage pain and mood early, and keep regular appointments with a CMT-experienced team. Small, steady actions over time have the biggest effect on quality of life. Charcot-Marie-Tooth Disease+2Muscular Dystrophy Association+2
Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.
The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members
Last Updated: December 22, 2025.
