What is Charcot-Marie-Tooth disease?
Charcot-Marie-Tooth disease (CMT) is a group of inherited conditions that damage nerves outside the brain and spine (peripheral nerves).
It's also known as hereditary motor and sensory neuropathy.
The peripheral nerves are located outside the main central nervous system (the brain and spinal cord). They control the muscles and relay sensory information, such as the sense of touch, from the limbs to the brain.
People with CMT experience:
- motor symptoms, such as muscle weakness, an awkward gait (the way a person walks), and curled toes
- sensory symptom*, such as numbness or pain
Read more information about the.
See your doctor if you notice symptoms of CMT. If it's suspected, you may be referred to a neurologist (a doctor who specialises in treating conditions of the nervous system) for further tests which could include:
- a nerve conduction test
- an electromyography (EMG)
- a nerve
If you or your partner has CMT, or if you are pregnant and know you are carrying a gene that causes it, you may consider pre-natal testing. There are two possible tests that might be used:
Read more information about.
There is currently no cure for CMT. However treatments can help relieve symptoms, aid mobility and increase the independence and quality of life for people with the condition.
CMT is not life-threatening, and most people with the condition have the same life expectancy as a person who does not have CMT.
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Living with CMT
CMT can cause further health complications which may affect your lifestyle. It can lead to deformities in the limbs, such as:
- flat feet
- high foot arches
- curvature of the spine ( )
It may also cause problems with using your hands, leading to difficulties performing everyday tasks, such as opening cans, typing or picking up objects.
Living with a long-term (chronic) condition that you know will get worse can have an emotional impact, leading to.
Some people find it helpful to speak to others with the condition through support groups. Research shows that a type of talking therapy called(CBT) can also help people cope better with a long-term condition.
Read more information about.
You can also find more information, support and practical advice about living with CMT on the CMT UK website.
Who is affected?
CMT is one of the most common inherited conditions that affect the peripheral nerves. It is estimated around 23,000 people may have the condition in the UK.
Women and men are equally affected by CMT. The condition affects people of all ethnic groups equally.
Charcot-Marie-Tooth disease symptoms
The severity of the symptoms of Charcot-Marie-Tooth disease (CMT) can differ from person to person, even among relatives with the condition.
There are also several different types of CMT. The symptoms of each type can also vary, even within the same type, including:
- the age at which the symptoms first appear
- how quickly symptoms progress
- severity of sympptoms
Read about thefor more information on different types.
Early symptoms of CMT
CMT is a progressive condition, which means symptoms gradually get worse over time. Therefore, it may be difficult to spot any symptoms in children who have CMT.
Signs and symptoms that may indicate a child has CMT include:
- appearing unusually clumsy and accident-prone for their age
- finding it difficult to walk because they may have problems lifting their feet from the ground
- their toes drop forward as they lift up their feet
Common symptoms of CMT
The symptoms of CMT usually appear before a person is 20 years old. They may become more apparent after puberty (when a child becomes a sexually developed adult), and the body is fully developed. However, they can begin at any time, even when a person is in their 70s.
Common symptoms of CMT include:
- muscle weakness in your feet, ankles and legs
- having feet that are very highly arched, which can make your ankle unstable or, alternatively, you may have very flat feet
- curled toes, often referred to as 'hammer toes'
- difficulty using your ankle muscles to lift your foot up
- an awkward or higher-than-normal step
- a lack of sensation in your arms and feet
If you have CMT, you may also develop a distinctive leg shape, which resembles an upside-down champagne bottle. Your thigh muscles will usually retain a normal shape and muscle bulk, but the section of leg below the knee may become very thin.
Symptoms of progressive CMT
As CMT progresses, the muscle weakness and lack of sensation will affect your hands and arms. This can lead to problems with both manual dexterity and hand strength, making tasks such as doing up the buttons of a shirt difficult or, in some cases, impossible.
Problems with walking and posture can put excessive strain on your body, which leads to muscle and joint pain. Less commonly, damaged nerves may also cause pain, known as neuropathic pain.
Problems with mobility and walking tend to get worse as you get older. Older people with CMT are more likely to need a walking aid to get around.
What causes Charcot-Marie-Tooth disease?
Charcot-Marie-Tooth disease (CMT) is caused by mutations in genes that affect the peripheral nerves.
To understand the causes of CMT, it is useful to first understand how peripheral nerves work.
The peripheral nerves
The peripheral nerves are a network of nerves that run from the brain and spinal cord (the central nervous system) and carry impulses to and from the rest of the body, such as the limbs and organs. Peripheral nerves are responsible for the body’s senses and movements.
A peripheral nerve is similar to an electrical cable, which is made up of two parts: the axon and the myelin sheath.
- The axon is like the wiring in an electrical cable. It is the part of the nerve that transmits the electrical information between your brain and limbs.
- The myelin sheath acts like the insulation of an electrical cable. It is wrapped around the axon to protect it and ensure the electrical signal is not broken.
Damage to the nerves
In some types of CMT, faulty genes (units of genetic material) cause the myelin sheath to disintegrate. Without the protection of the myelin sheath, the axons become damaged, and the muscles and senses no longer receive proper messages from the brain. This leads to the muscle weakness and numbness.
In other types of CMT, the axons are directly affected. Due to faulty genes, the axons do not transmit electrical signals at the proper strength, which means muscles and senses are under-stimulated. Again, this leads to symptoms of muscle weakness and numbness.
The genetics of CMT
CMT is an inherited (genetic) disorder, which is caused by mutated (changed) genes you inherit from your parents. The genes involved produce proteins that affect either the axon of the peripheral nerve, or the myelin sheath.
There is no single mutated gene that causes CMT. The many varieties of CMT are caused by different genetic mutations.
CMT is an unusual genetic disorder because the mutated genes can be inherited in several different ways. These ways are described below.
Autosomal dominant inheritance of CMT occurs when one copy of a mutated gene is enough to cause the condition. If either parent carries a defective gene, there is a 1-in-2 chance that the condition will be passed on to any children they have.
Autosomal recessive inheritance of CMT occurs when two copies of the defective gene are needed to cause the condition. You inherit one copy from each parent. As your parents have only one copy of the gene, they do not develop CMT themselves.
If both you and your partner are carriers of the autosomal recessive CMT gene:
- there is a 1-in-4 chance that your child will develop CMT
- there is a 1-in-2 chance they will inherit one of the defective genes and become a carrier (although they will not have any of the symptoms of CMT)
- there is a 1-in-4 chance they will receive a pair of healthy genes
If only you have the autosomal recessive gene, and your partner does not, your child will not develop CMT. However, there is a 1-in-2 chance your child will carry the defective gene.
In X-linked inheritance, the mutated gene is located on the X chromosome and passed from mother to son. Chromosomes are the sections of your body’s cells that carry your genes.
Men have XY sex chromosomes. They receive the X chromosome from their mother and the Y chromosome from their father. Women have XX sex chromosomes. They receive one X chromosome from their mother and the other X chromosome from their father.
A woman with the defective X chromosome will usually have none or very mild symptoms because the other healthy X chromosome counters the effect of the defective one. However, there is a 50% chance that she will pass on the defective gene to her son and that he will develop CMT.
If a woman with the defective X chromosome only has daughters, CMT can skip a generation until one of her grandsons inherits it.
As well as identifying the different genes that are involved in CMT, future research may also consider other factors that could affect the development of the condition.
Even among family members with the same type of CMT, symptoms can vary widely. It is therefore possible that other genetic or environmental factors affect the development of CMT.
Types of CMT
There are different types of CMT are all caused by different mutations (changes) in your genes. The most common types of CMT are outlined below.
- CMT 1 - caused by defective genes that are involved in the production of the myelin sheath. The defects cause the myelin sheath to slowly break down. CMT 1 is the most common type of CMT, accounting for around a third of cases.
- CMT 2 - caused by defects in the axon. It is less common than CMT 1, accounting for around one in six cases.
- CMT 3 - also known as Dejerine-Sottas disease, it is a rare and severe type of CMT that affects the myelin sheath. It is characterised by extreme muscle weakness and sensory problems. Unlike other types of CMT, symptoms usually begin in early childhood.
- CMT 4 - another rare type of CMT that also affects the myelin sheath. The exact genes that cause CMT 4 have not yet been identified, but it is thought several different genetic processes may be involved. As with CMT 3, symptoms of CMT 4 usually begin in childhood, and many people with the condition are unable to walk.
- CMT X - caused by a mutation in the 'x' chromosome, (one of the chromosomes that determine what sex you are.) CMT X is more common in men than in women, and is estimated to account for around 1 in 10 CMT cases.
Charcot-Marie-Tooth disease diagnosis
During initial stages of diagnosing Charcot-Marie-Tooth disease (CMT), your doctor will ask about your symptoms and whether there is any history of CMT in your family.
Your doctor may want to know:
- when your symptoms started
- how severe your symptoms are
- if anyone in your family has CMT
After asking about your symptoms and family history, your doctor will carry out a physical examination. During the examination, your doctor will be looking for evidence of the condition, such as:
- muscle weakness
- reduced muscle tone
- missing reflexes
- foot deformities, such as high arches or flat feet
If CMT is suspected, you may be referred to a neurologist (a doctor who specialises in treating conditions of the nervous system) for further testing. Tests you may have are described below.
Nerve conduction test
A nerve conduction test measures the strength and speed of signals transmitted through your periphery nerves (the network of nerves that run from the brain and spinal cord to and from the rest of the body, such as the limbs and organs).
Electrodes (small metal discs) are placed on your skin, which release a small electric shock that stimulates the nerves. The speed and strength of the nerve signal is then measured. An unusually slow or weak signal could indicate CMT.
Electromyography (EMG) uses a small needle-shaped electrode placed in your skin to measure the electrical activity of your muscles. Some types of CMT cause a distinctive change in the pattern of electrical activity that can be detected by an EMG.
A nerveis a minor surgical procedure where a sample of a periphery nerve is removed from your leg for testing. CMT can cause physical changes to the shape of the nerve, which can be seen under a microscope.
The biopsy is carried out under a, so you will be awake but unable to feel pain.
Genetic testinginvolves taking your blood sample and testing it for defective genes (units of genetic material) known to cause CMT. So far, around 25 of these genes have been found. However, there may be more not yet identified.
It is estimated that 70% of people with CMT may be able to have their diagnosis confirmed by genetic testing, and find out exactly which type of CMT they have. For others, genetic testing may prove inconclusive because an unidentified gene may be involved in their CMT.
Pre-natal testing may help determine whether an unborn baby has CMT. This may be useful if you or your partner has CMT, or if you know you are carrying a gene that causes it, and are going to become a parent.
Two tests which may be used:
These tests are described briefly below.
Chorionic villus sampling (CVS)
Pre-natal testing for conditions such as CMT can be carried out around 10 to 13 weeks into the pregnancy using chorionic villus sampling (CVS).
CVS involves taking a sample of cells from the placenta (the organ that links the mother’s blood supply with her unborn baby’s). The sample is tested for genetic (inherited) conditions.
Amniocentesis can also be used to test for CMT. This test is carried out around 15-18 weeks into the pregnancy. It involves taking a small sample of amniotic fluid (the fluid that surrounds the unborn baby in the womb) for examination.
It is important to remember that although these tests may help determine whether your child has the defective gene, they will not indicate how serious the CMT will be. This is because the symptoms and progression of the condition can vary widely, even among family members with the same type of CMT.
Charcot-Marie-Tooth disease treatment
Treatment for Charcot-Marie-Tooth disease (CMT) is based on rehabilitation techniques to help you live with your symptoms, and surgery to correct any deformities in your bones, for example, in your feet.
As CMT is a progressive condition (it gets worse over time), you will need to be assessed regularly to check for any new developments in your condition. How often you are assessed will depend on the type of CMT that you have, and the severity of your symptoms.
Your treatment programme may involve a number of healthcare professionals working together in a multidisciplinary team (MDT). You will usually have a doctor who co-ordinates your treatment programme and makes sure every aspect of your condition is closely monitored and treated if necessary.
Physiotherapyis one of the most important treatment methods for relieving the symptoms of CMT and slowing progression of the condition.
Physiotherapy, often referred to as physio, uses physical methods, such as massage and manipulation, to promote healing and wellbeing. It usually involves low-impact exercises such as:
- moderate weight-training
There is a lack of good quality medical research into the benefits of exercise for people with CMT. However, it is possible that some types of exercise are beneficial. For example:
- strengthening exercises, which focus on strength training, such as lifting weights, may help improve muscle strength
- aerobic exercise, which raises your heart rate and makes you breathe harder, such as walking or swimming, may improve your fitness and your ability to function on a day-to-day basis
- posture and balance exercises, such as yoga, may also have benefits
Any exercise needs to be carefully planned as part of a personalised exercise programme. While a certain level of exercise may be safe, you risk making your symptoms worse if you do not follow proper instructions.
Speak to your doctor or physiotherapist about arranging a suitable exercise programme which will allow you to pace yourself. Read more information about the benefits of exercise.
Occupational therapy involves identifying problem areas in your everyday life, such as dressing yourself, then working out practical solutions.
Occupational therapy will be useful if muscle weakness in your arms and hands makes it difficult for you to do day-to-day tasks, such as dressing or writing.
An occupational therapist will teach you how to use adaptive aids to compensate for your difficulties, such as clothing that has clasps instead of buttons, and magnetic tubes that allow you to pick up objects.
Orthoses are devices worn inside your shoes or on your legs to improve the strength and functionality of your limbs, or to correct your gait (the way you walk).
There are several different types of orthoses, including:
- insoles in your shoes
- custom-made shoes that support your ankles
- ankle or leg braces
- thumb splints that can improve your hand strength
In the most severe cases, someone with CMT may need a wheelchair. However, it is estimated that a wheelchair is necessary for less than 1 in 20 people.
There are two types of pain associated with CMT:
- joint and muscle pain - caused by the stresses that CMT places on your body
- neuropathic pain - caused by damage to your nerves
Joint and muscle pain
Joint and muscle pain can usually be controlled by taking(NSAIDs), such as ibuprofen.
Neuropathic pain may be treated with medicines known as tricyclic(TCAs). As the name suggests, TCAs were originally designed to treat depression, but they have also successfully treated some cases of neuropathic pain.
Common side effects of TCAs include:
- dry mouth
- constipation (being unable to empty your bowels)
- problems passing urine
- slight blurring of vision
These side effects should ease after 7 to 10 days as your body gets used to the medication. Do not smoke cannabis when taking TCAs because it may cause a rapid heart beat.
Alternatively, you may be prescribed an anti-convulsant medicine (a medicine that is often used to prevent seizures), such as carbamazepine or gabapentin. These are often used to treat other conditions that cause neuropathy because they calm down nerve impulses and help relieve pain.
In some cases, anti-convulsants can cause side effects, such as:
- nausea (feeling sick)
For full details of possible side effects, see the patient information leaflet that comes with your prescribed medication.
The treatment of CMT aims to lessen the effect the condition has on your everyday life. However, there are precautions that you should take - for example, certain medicines may need to be avoided. You may be given the following advice:
- avoid medicines that are known to cause nerve damage, such as vincristine (a medicine used to treat cancer)
- avoid caffeine (found in tea, coffee and cola) and nicotine (found in tobacco) if you have tremors (shaking), as they can make this worse
- avoid drinking too much alcohol as this has many health risks, which may be worse if you have CMT
- avoid becoming obese (very overweight) because this can make walking more difficult
Ask your MDT if they have specific lifestyle recommendations for you, as risks may vary from person to person.
If CMT causes significant deformities in your feet that cause you pain, surgery may be needed to correct them. There are three main surgical techniques for correcting deformities. They are:
- plantar fascia release
These are described in more detail below.
An osteotomy is a surgical procedure used to correct severe flatness of the feet. An incision (cut) is made in your foot and the surgeon removes or repositions the bones in your foot in order to correct its shape.
After surgery, your foot (or feet) will need to be kept in plaster for several weeks until the bones have healed.
Arthrodesis can also be used to correct flat feet, as well as relieve joint pain and correct heel deformities. It involves fusing the three main joints in the back of your feet in order to strengthen your feet, correct their shape and relieve pain.
After surgery, your foot (or feet) will be placed in a cast (a hard covering usually made of plaster), and you will not be able to place any weight on them for six weeks. During this time, you will need to use crutches or a wheelchair.
Once you can put weight on your feet, you will need to wear the cast for another six weeks (12 weeks in total). However, it may take up to 10 months for you to fully recover from the operation.
Plantar fascia release
Plantar fascia release is a surgical procedure used to relieve the persistent heel pain caused by inflamed (red and swollen) tendons. Tendons are the white, fibrous cords that join bones to muscle.
During the procedure, part of the tendon is removed and the remaining tendon repositioned and allowed to heal. Afterwards, you will need to wear a cast for three weeks, and will not be able to put any weight on your feet during this time.
If you have curvature of the spine (), you may need to wear a back brace to correct it. In more severe cases of scoliosis, surgery may be required.
If you or your partner has CMT and you want to have a child, you may be referred to a.
A genetic counsellor is someone who specialises in helping people with genetic conditions who want to have children. They will be able to explain the exact risks of you passing CMT on to your child.
In some cases, it may be possible to test an unborn baby for CMT during the initial stages of pregnancy. If the test is positive, you will have to decide whether you wish to proceed with the pregnancy. The decision is for you and your partner to make. Nobody should pressure you into making a particular choice.
Read aboutfor more information on prenatal testing.
There is some promising research that may provide new ways of treating people with CMT. This research includes:
- using stem cells (cells that are at an early stage of development) to repair nerve damage
- using hormones (powerful chemicals) and gene therapy to slow progression of the condition
Ascorbic acid (vitamin C) is currently being tested in a number of(medical research that tests one type of treatment against another). It is thought ascorbic acid may improve the neuropathy (nerve damage) caused by CMT.
Complications of Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease (CMT) can cause further health complications, and this condition may affect your lifestyle in general.
You can find more information and practical advice about living with CMT on the CMT UK website.
In rare cases, Charcot-Marie-Tooth disease (CMT) affects nerves that control your diaphragm (a muscle used to help you breath). This can lead to breathing difficulties. For example, you may always feel out of breath.
Always report any breathing-related symptoms to your doctor as soon as possible because any problem with your ability to breathe needs prompt treatment.
If you have breathing difficulties, you may be prescribed, which can assist your breathing by widening your airways. In more severe cases, you may need to use a mechanical breathing aid, such as a ventilator.
If you are overweight, try to lose weight. Reaching your healthy weight will reduce the stress on your diaphragm and make breathing easier.
Living with a long-term (chronic) condition that you know will get worse can be stressful and can lead to.
If you have been feeling down during the past month and take no pleasure from things you used to enjoy, you may have depression. If this is the case, contact your doctor.
Talking to other people who are living with CMT may reduce feelings of isolation and stress.
Cognitive behavioural therapy (CBT)
Some studies have shown that a type of therapy called(CBT) can help people cope better with a chronic condition, such as CMT.
CBT is based on the principle that the way you feel partly depends on the way you think about things.
Training yourself to react differently to your condition, using relaxation techniques and keeping a positive attitude has been shown to reduce pain and stress levels. You are also more likely to maintain a healthy lifestyle and diet, which will also help you to cope better with your CMT.
Studies have shown that people with CMT who are employed tend to cope better with their condition than people who do not work. If finding paid work is difficult, you could consider doing voluntary activities.