Charcot Marie Tooth Disease

Overview

Charcot-Marie-Tooth disease (often called CMT) is a group of inherited (genetic) conditions that affect the peripheral nerves — the nerves outside your brain and spinal cord. CMT causes muscle weakness, numbness, and reduced feeling in the feet, legs, hands, and arms. It is also called hereditary motor and sensory neuropathy. Despite the name, it has nothing to do with your teeth; it was named after the doctors who first described it.

CMT is one of the most common inherited nerve disorders. It affects roughly 1 in every 2,500 people worldwide.

CMT can affect anyone, equally in men and women. Symptoms often begin in childhood, the teenage years, or early adulthood, but some people notice them later in life. The condition varies greatly from person to person, even within the same family.

Symptoms

Common symptoms

• Weakness in the feet and lower legs, often causing a 'foot drop' walk (lifting the knee high to avoid catching the toes)
• Numbness, tingling, or reduced feeling in the hands and feet
• Foot deformities, such as high arches or hammertoes
• Difficulty with balance and frequent tripping
• Muscle cramps or twitching
• Gradual muscle loss (wasting) in the lower legs and hands

Symptoms in children

• Frequent tripping or falling
• Unusual walking pattern (for example, high-stepping)
• Difficulty keeping up with friends when running or playing sports
• Clumsy hands — dropping objects often
• High arches or unusual foot shape

Symptoms in older adults

• More noticeable weakness in the legs and hands
• Increased risk of falls and injuries
• Difficulty with fine hand movements, such as buttoning a shirt
• Loss of stamina when walking
• Feeling unsteady on uneven surfaces

Causes

Main causes

• Changes (mutations) in certain genes that affect how peripheral nerves work
• Inheriting a faulty gene from one or both parents
• Sometimes a spontaneous genetic change that occurs with no family history

Risk factors

• Having a family history of CMT
• Having a parent or sibling with the condition

When to see a doctor

See a doctor urgently if:

• Sudden, severe weakness or numbness that comes on quickly
• Uncontrolled pain or inability to move a limb
• Any symptom that feels like a stroke or heart attack — call your local emergency number

Book a routine appointment if:

• Persistent weakness, numbness, or foot deformities that are not improving
• Frequent tripping or difficulty with everyday tasks
• Concerns about your walking or balance
• Family history of CMT and you want to know your risk

Diagnosis

A doctor will take a detailed medical history and do a physical exam. They may ask about family history and test your strength, reflexes, and sensation. If they suspect CMT, they will likely refer you to a neurologist (a doctor who specialises in the nervous system).

Tests that may be done

• Nerve conduction studies — small sensors on your skin measure how fast electrical signals travel along your nerves
• Electromyography (EMG) — a thin needle checks the electrical activity of your muscles
• Genetic blood tests — these can identify changes in genes that cause CMT
• Sometimes nerve biopsy (taking a tiny sample of nerve tissue) — this is rare today

What to expect at your appointment

The diagnosis process usually takes a few appointments. You may need several tests over a few weeks. After the tests, your specialist will explain the results and what they mean for you. They will also discuss whether any family members should be tested.

Treatment

There is no cure for CMT, but there are many ways to manage the symptoms. Treatment focuses on keeping you as active and independent as possible, preventing complications, and dealing with pain or weakness.

Self-care at home

• Choose supportive shoes with good ankle support; ask a podiatrist for advice
• Take care of your feet — inspect them daily for blisters, cuts, or pressure areas
• Stretch regularly to keep muscles flexible and reduce cramps
• Avoid injuries by keeping your home safe and well-lit
• Pace yourself during activities so you don't push through severe pain or fatigue

Medical treatments

Your healthcare team may suggest physical therapy to strengthen muscles and improve balance, or occupational therapy to make daily tasks easier. They might recommend braces or orthotics to support your feet and ankles. Your doctor may also suggest medications for pain or muscle cramps. Always ask your doctor before taking any new medicine or supplement.

When is surgery considered?

Surgery is occasionally considered for severe foot deformities, stiff joints (contractures), or to relieve pressure on nerves. It is decided individually with an orthopaedic surgeon, and only after trying non-surgical options.

Living with this condition

Living with CMT involves adapting your daily routine to your changing abilities. Use energy-saving strategies, try different hand grips, and don't be afraid to ask for help. Keep doing the things you enjoy, and let your healthcare team support you as your needs change.

Lifestyle tips

• Regular low-impact exercise, like swimming or cycling, to keep muscles strong
• Protect your hands and feet from injury
• Avoid smoking and limit alcohol, as both can harm nerves
• Get enough rest to manage fatigue
• Stay socially connected with friends and family

Diet and exercise

A balanced diet with plenty of vegetables, fruits, lean protein, and whole grains helps you maintain energy. Exercise, especially gentle aerobic activity, stretching, and strength training, can improve your stamina and reduce stiffness. Always check with your doctor before starting a new exercise plan.

Mental health and emotional wellbeing

Dealing with a long-term condition can sometimes lead to frustration, anxiety, or low mood. It's completely normal. If you're struggling, talk to your doctor or a counsellor. You can also reach out to mental health services. If you are having thoughts of harming yourself, please contact a crisis line immediately.

Prevention

CMT cannot be prevented because it is caused by a genetic change. If you have a family history, genetic counselling can help you understand the risks for you or your children. Genetic counselling is a service that helps you decide whether genetic testing is right for you.

Vaccines

No specific vaccine is needed for CMT, but keeping up with routine vaccinations (like the flu vaccine) is important to avoid infections that could make your overall health worse.

Screening programmes

If you have a family history of CMT, a doctor may recommend genetic testing. This is optional and should happen after genetic counselling, so you understand the implications.

Complications

If left untreated

• Frequent falls and injuries due to weakness and numbness
• Foot deformities that worsen over time
• Pressure sores or unnoticed foot wounds that can become infected
• Reduced mobility and independence

Long-term outlook

The outlook for CMT varies. For most people, symptoms progress slowly and do not affect life expectancy. With good medical care, foot care, and support, many people with CMT live full, active, and independent lives. Researchers are continuing to study new treatments and approaches.

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