Charcot Marie Tooth Disease Cmt

Overview

Charcot-Marie-Tooth disease, usually called CMT, is a group of inherited conditions that damage the nerves connecting your brain and spinal cord to your muscles and skin. These are called the peripheral nerves (the nerves outside the brain and spine). When these nerves are damaged, signals do not travel properly between your body and your brain. Over time this leads to weak, thin muscles and reduced feeling, most often starting in the feet and lower legs, and later affecting the hands. CMT is not a muscle disease and it is not life-threatening for most people. It usually gets worse very slowly over many years.

CMT is one of the most common inherited nerve conditions. Experts estimate it affects roughly 1 in every 2,500 people worldwide, so most towns and cities will have people living with it.

CMT can affect anyone, at any age, in any ethnic group, and it affects men and women equally. Symptoms often first appear in childhood or the teenage years, but some people only notice problems in their 30s or later. Different family members can be affected very differently, even when they have the same faulty gene.

Symptoms

Common symptoms

• Weak ankles that roll or give way, leading to trips and sprains
• Foot drop, where the front of the foot drags because the muscles that lift it are weak
• High arches and curled toes (hammer toes) that make shoes hard to fit
• Lower legs that look thin compared with the thighs
• Numbness, tingling, prickling or a 'cotton wool' feeling in the feet, and later in the hands
• Poor balance, especially in the dark or on uneven ground
• Weak grip, dropping things, or trouble with buttons, zips and jar lids
• Muscle cramps and tiredness in the legs after walking or standing
• Cold feet, or feet that feel uncomfortable in shoes and socks
• Reduced or absent ankle reflexes, which a doctor can check

Symptoms in children

• Walking on tiptoes, or a tendency to trip and fall more than other children
• Being called 'clumsy' or finding running, hopping and ball games hard
• Feet that look unusually shaped, or shoes that wear out unevenly
• Handwriting that becomes messy or slow because of weak hand muscles
• Complaining of aching legs or getting tired quickly on walks
• Needing to hold a handrail, or looking down at their feet to keep balance

Symptoms in older adults

• More frequent falls, and a fear of falling that reduces confidence
• Balance problems that get worse in low light or on stairs
• Weak hands making everyday tasks like opening packets or turning keys harder
• Skin problems or small wounds on the feet that are not noticed because of reduced feeling
• Increased tiredness, and stiff ankles or tight heel cords
• Symptoms that may be mistaken for 'just getting older', so it is worth mentioning them to your doctor

Causes

Main causes

• CMT is genetic. It is caused by a change (variant) in one of many genes that affect how the nerves and their protective coating work.
• It can be passed down in different patterns: some types need only one affected parent to pass it on, some need both parents to carry a gene change, and some are linked to the X chromosome.
• Sometimes a gene change happens for the first time in a person, with no family history at all. This is called a new (de novo) variant.
• There are many types of CMT, and each type is linked to a particular gene. Knowing your type can help your doctor predict how it may affect you.

Risk factors

• Having a parent, brother, sister or other close relative with CMT
• Being in a family where several people have foot problems, high arches, or walking difficulties
• Some types are more likely depending on your family background, but CMT itself can affect anyone

When to see a doctor

See a doctor urgently if:

• You develop a foot wound, blister or ulcer that you can feel little or not at all
• You have a fall with severe pain, swelling or an inability to put weight on the leg
• Your weakness or numbness gets noticeably worse over a few days
• You notice new breathing problems, especially at night, or new swallowing difficulty

Book a routine appointment if:

• You keep tripping, rolling your ankle, or find it hard to lift the front of your foot
• Your feet are changing shape, or you have high arches, curled toes or calluses that hurt
• You have numbness, tingling or burning in your feet or hands
• You are dropping things, or finding buttons and handwriting difficult
• Someone in your family has CMT and you would like to talk about your own risk
• You would like advice about shoes, braces, physiotherapy or help at work

Diagnosis

A doctor will start by asking about your symptoms and your family history, then examine your feet, legs, hands, reflexes and balance. If CMT seems likely, you will usually be referred to a neurologist (a doctor who specialises in nerves) for nerve tests and possibly genetic testing. Diagnosis can take time, and that is normal.

Tests that may be done

• A physical and neurological examination, including checking reflexes, sensation, muscle strength and how you walk
• Nerve conduction studies, where small sticky pads are placed on the skin and a mild electrical pulse shows how well your nerves carry signals
• Electromyography (EMG), which uses a very fine needle to check how your muscles respond to nerve signals
• A blood test for genetic testing, which can confirm the type of CMT and help other family members
• Blood tests to rule out other causes of nerve damage, such as vitamin deficiencies, thyroid problems or diabetes
• Sometimes an MRI scan or, rarely, a nerve biopsy (a tiny sample of nerve) if the diagnosis is still unclear
• Genetic counselling, to talk through what the results mean for you and your family

What to expect at your appointment

The tests are usually done as an outpatient and you can go home the same day. Nerve conduction studies feel like small, odd tingles rather than pain. Genetic test results can take several weeks or months. You may be offered follow-up appointments to check how you are doing, and support from physiotherapists, occupational therapists or orthotists (specialists in braces and footwear).

Treatment

There is no cure for CMT, and no treatment that reverses nerve damage. But a lot can be done to protect your joints, keep you mobile, prevent falls and make everyday tasks easier. Treatment is tailored to you and usually involves a team including your GP, a neurologist, a physiotherapist, an occupational therapist and a footwear specialist.

Self-care at home

• Do gentle, regular exercise such as walking, swimming, cycling or chair-based exercise to keep muscles and joints working
• Stretch your calf muscles and ankles daily, as tight heel cords are common in CMT
• Wear well-fitting shoes with a good sole and enough room in the toe box, and check your feet every day for cuts, blisters or redness
• Use handrails, night lights and remove loose rugs at home to reduce the risk of falls
• Keep to a healthy weight to reduce strain on your feet, ankles and knees
• Ask about ankle-foot orthoses (lightweight splints worn in the shoe) if your foot drops or you trip often
• Pace yourself, and plan rest breaks on days with a lot of walking or standing

Medical treatments

Care focuses on managing symptoms and keeping you active. This can include physiotherapy to strengthen muscles, keep joints flexible and improve balance; occupational therapy to find easier ways to do daily tasks and to advise on equipment at home; orthotics and specialist footwear, including insoles and ankle-foot splints; and pain relief prescribed by your doctor for nerve pain, cramps or joint pain. Your doctor may also review any medicines you take, because a small number of medicines can affect nerves, and some types of CMT need extra checks such as breathing tests or hearing tests. Vitamin supplements are only needed if a blood test shows a shortage. Always check with your GP or pharmacist before starting anything new, including over-the-counter remedies and supplements.

When is surgery considered?

Surgery is not needed for most people with CMT. It may be considered if you have a fixed foot deformity that makes shoes painful or walking very difficult, such as a badly curled toe or a tight heel cord, or if you develop a curved spine (scoliosis). Surgery is only offered after a full assessment by a specialist team, and it is usually combined with physiotherapy and bracing afterwards.

Living with this condition

Most people with CMT can work, drive, travel and enjoy family life. The key is to build small habits that protect your feet, hands and balance — good shoes, daily foot checks, handrails, and asking for adjustments at work if you need them, such as a chair that suits your height or a parking space nearer the door. Fatigue is common, so planning your week with rest built in helps more than pushing through.

Lifestyle tips

• Choose footwear carefully — avoid tight, pointed or high-heeled shoes, and break in new shoes slowly
• Keep your home safe: good lighting, grab rails on stairs, and clear walkways
• Use aids if they help — a walking stick, trekking poles, or a shower stool are practical tools, not a sign of giving up
• Tell your dentist and any surgeon that you have CMT, as some types need extra care with anaesthesia
• Keep your blood sugar and blood pressure healthy, and limit alcohol, to protect your nerves
• See a podiatrist (foot specialist) regularly if you have hard skin, curled toes or reduced feeling in your feet

Diet and exercise

There is no special diet for CMT. A balanced, varied diet with plenty of vegetables, fruit, whole grains and protein helps you keep a healthy weight and gives your nerves and muscles the nutrients they need. Regular movement matters more than any single food. Aim for a mix of gentle aerobic activity, light strength work and daily stretches, and build up slowly. Swimming and cycling are often easier on the feet than running. A physiotherapist can design a programme that suits your level and any joint problems.

Mental health and emotional wellbeing

It is completely understandable to feel frustrated, worried or sad about a condition that changes how your body works, especially if CMT affects your job, sport or independence. Many people also feel grief when they first get a diagnosis, or when they have to give up activities they love. These feelings are normal and they usually change over time. Talking to a counsellor, a clinical psychologist, or a trusted friend or family member can really help. If low mood or anxiety is affecting your daily life, please speak to your doctor — effective help is available. If you ever have thoughts of harming yourself, contact your local emergency number or a crisis line in your country straight away, and tell someone you trust.

Prevention

CMT cannot be prevented, because it is caused by a gene change you are born with. What you can do is reduce the chance of complications: protect your feet, keep active, keep your blood sugar healthy, limit alcohol, avoid medicines that are harmful to nerves, and get advice early if walking or balance changes. If CMT runs in your family, genetic counselling can explain the chance of passing it on and what options are available.

Vaccines

Stay up to date with the routine vaccinations your doctor recommends for your age and health. This helps you avoid infections that are harder to recover from when you have a long-term condition. Ask your GP or pharmacist which ones are right for you.

Screening programmes

There is no general screening programme for CMT. If a relative has CMT, your doctor can discuss whether genetic testing or a specialist assessment would be useful for you, even if you have no symptoms. Regular foot checks — by you daily and by a podiatrist — act as practical screening for ulcers and deformity.

Complications

If left untreated

• Foot deformities such as very high arches and curled toes that make shoes painful
• Foot ulcers and infections, especially if reduced feeling means you do not notice small injuries
• Falls, sprains and broken bones from weak ankles and poor balance
• Stiff, tight joints (contractures) if muscles and tendons are not stretched regularly
• Hand weakness that makes writing, dressing and cooking harder
• Curved spine (scoliosis) in some children and teenagers
• Tiredness, pain and reduced confidence, which can affect work, mood and social life

Long-term outlook

CMT usually progresses very slowly, over decades, and most people have a normal lifespan and a good quality of life. Many people keep walking, working and enjoying hobbies with the right shoes, exercises and supports in place. Research into CMT is active and growing, with several promising approaches being studied. If your symptoms change, tell your care team — there is almost always something practical that can be adjusted to help.

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