Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease (CMT) is a genetic, or inherited neurological condition. It affects the nervous system, and specifically the peripheral nervous system. This system relays messages between the brain and body parts. It consists of nerves in the brain and the spinal cord and enables your body to act, both voluntarily (when your brain tells it to) and involuntarily (e.g. when your organs work without you thinking about it). Charcot-Marie-Tooth disease causes problems with being able to feel different sensations, such as hot, cold, pain, etc. It also affects motor skills, which are necessary for activities that involve the purposeful movement of muscles.

Charcot-Marie-Tooth is named after the three scientists who discovered the disease. It is considered to be a type of muscular dystrophy because it leads to wasting of the muscles. It is also known as hereditary motor and sensory neuropathy (HMSN).

It is thought that around 23,000 people in the UK have some form of CMT, so whilst it is the most common disorder of its type, it is quite rare. It is believed that many people may have CMT and not realise it, or avoid seeking a diagnosis. There is currently no cure for the condition, and Charcot-Marie-Tooth disease treatment usually focusses on managing symptoms, although there may be some surgical options and drug-based pain relief medication available to you.

CMT is progressive, and as such, it is likely that symptoms may get worse over time, but it does not usually affect a person’s life expectancy, and many people live well with the condition.

CMT is caused by a faulty gene in the peripheral nervous system, inherited from one or both parents. This faulty gene causes nerve damage to occur, usually in a person’s arms and legs. Nerves consist of an inner axon that transmits signals to the brain, and an outer myelin sheath that insulates and protects the signal and the axon. Charcot-Marie-Tooth disease causes damage to the axon and/or myelin sheath.

We are all made up of DNA, which is a code that determines the physical characteristics of our bodies. DNA is made up of thousands of genes, which are responsible for instructing cells in the body to make proteins. Proteins are the building blocks of the body, essential for the formulation of muscle, tissue and organs.

The nerve damage that causes symptoms of Charcot-Marie-Tooth disease occurs because the faulty gene affects the normal development of proteins that are important to the health and strength of the axon and myelin sheath within our nerves.

It can be quite difficult to understand genetic diseases such as CMT, so we give a simplified account below, but for more detailed information about how Charcot-Marie-Tooth is inherited, please visit the Charcot-Marie-Tooth UK website.

Genes are inherited from our parents. They come in pairs, otherwise known as ‘chromosomes’, with one gene being passed from a person’s mother and the same type of gene being passed from their father. Therefore, if there is a fault in one or more genes, there is a chance this will be passed down from the parent to the child. Inheriting a gene does not necessarily mean it will cause any adverse effect. This will depend upon the type of inheritance pattern that is associated with the particular gene. If you would like a better understanding of patterns of inheritance, visit the Genetic Disorders UK website.

It is, therefore, possible to be a carrier of a recessive, faulty gene, and to not actually have Charcot-Marie-Tooth disease yourself, but to have the risk of passing the gene on to your children.

It is also possible for genes to mutate over time, without previous inheritance, known as ‘de novo’ mutation.

If you have been given a diagnosis of a type not listed here, contact Charcot-Marie-Tooth UK for further advice and information.

Early symptoms of Charcot-Marie-Tooth disease that may be spotted in young children from around age 5 are that they may find walking difficult or their ability to walk delayed because it is difficult for them to lift their feet, or they have foot drop.

If you think you or your child may have any of the symptoms of Charcot-Marie-Tooth disease listed here, it is important not to panic but to visit your GP to discuss further. The symptoms you have may be the result of a number of other factors or minor health conditions.

If you visit your GP, they are likely to ask you lots of questions about your symptoms and conduct a physical examination to look for muscle weakness or visible signs such as unusual feet.

If your doctor suspects you may have the condition, the next step to a confirmed diagnosis of Charcot-Marie-Tooth disease will be to undergo neurological tests, and you are likely to be referred to a hospital neurologist. To learn more about testing for Charcot-Marie-Tooth disease, visit the NHS website.

If you are a young person with a Charcot-Marie-Tooth diagnosis, or their parent, you are likely to have a range of emotions and concerns about the future. Many children with CMT live long and fulfilling lives with the condition. A guide for parents of children with Charcot-Marie-Tooth, ‘My Child has CMT’, is available online and covers many topics specifically relevant to young people and their families.

If you require support to find out more about how you can support your child in terms of education, benefits or finding a support group, Contact is a charity dedicated to families with disabled children.

There are ways to treat Charcot-Marie-Tooth disease so that a person with the condition is able to live well.

There is currently no cure for the condition, but research into how the disease occurs, develops and potential disease-modifying-therapies is continuing. Read more about research projects funded by the charity Charcot-Marie-Tooth UK.

Treatment for Charcot-Marie-Tooth disease is likely to be orchestrated by a neurologist, but is likely to involve many other hospital departments and healthcare professionals. For example, a physiotherapist may assist you with managing any physical or movement issues you are experiencing. They are experts in dealing with problems affecting muscles and joints, so if CMT is causing a person to have difficulty walking, they are able to provide solutions that may help. They may prescribe a walking aid, a series of strengthening exercises, and they may be able to manually manipulate areas of the body that are causing tension, pain or stiffness, with the use of massage and similar techniques.

Some people with Charcot-Marie-Tooth disease will experience a degree of pain at some stage during the progression of their condition. Pain sometimes comes from nerve damage, or occurs because muscles have become weaker. Some people find that these physical changes cause pain and strain in other areas of the body, since it is common for the body to adapt the way it moves to compensate for weakness in certain areas. Pain can be managed with medication and you may be referred to a pain management clinic. Everyone deals with pain differently though, and each person with CMT will have a different experience. Remember - lots of services exist to provide support for Charcot-Marie-Tooth disease, and your GP can help you access many of them.

Charcot-Marie-Tooth disease treatment options may also include orthopaedic surgery, most commonly of the foot. Surgery may be an option if your feet are particularly affected and if this is affecting your mobility and quality of life. There are many forms of surgery to correct a variety of deformities and physical problems, which are explained in more detail on the NHS website.

There are other potential Charcot-Marie-Tooth disease treatments, such as speech therapy if the condition is causing some problems with talking or swallowing, and occupational therapy, which looks at ways a person can adapt their daily tasks (with or without the use of specially designed equipment) to help them live well. Read on to find out more about occupational therapy products for Charcot-Marie-Tooth disease.

There are products for Charcot-Marie-Tooth disease available, which some people use to help them with mobility and to get around safely, as well as for daily tasks that may have become difficult due to their condition.

You may be entitled to have an assessment by an occupational therapist through your local social services department, which will involve a therapist coming to your home and watching you undertake a variety of daily tasks that you are finding difficult. They may be able to suggest different ways of approaching the tasks that will make them easier, and recommend some equipment called ‘daily living aids’ to assist you. You may be entitled to some of these for free, or you may have to fund them yourself.

At Healthcare Pro, we are experts in daily living aids. Here, we list some products for Charcot-Marie-Tooth disease that can help with a selection of daily tasks that some people may find difficult.

This is not an exhaustive list, and if you are looking for products that may help you, we have a team of Occupational Therapists at Healthcare Pro who can advise on the best equipment to suit your needs. Contact them by Email: productadvice@healthcarepro.co.uk or telephone: 0345 121 8111.

You may also wish to make contact with Disabled Living Foundation, a charitable organisation that provides advice and information about equipment for people with disabilities.

Many people with a diagnosis of Charcot-Marie-Tooth disease are able to work, but may require support from their employers to ensure their needs and requirements are met.

Many young people with Charcot-Marie-Tooth disease are able to go to school, college/university and then on to the workplace.

For anyone with a long-term health condition, a healthy diet and undertaking regular exercise is really important to their overall health and well-being. A physiotherapist may be able to devise a programme of exercises for Charcot-Marie-Tooth disease, that will help strengthen muscles and keep body weight to a manageable level as well as help improve balance ability.

Improving your overall activity level does not necessarily mean going to the gym or attempting to take up jogging. The NHS provides a wealth of advice about how to get active with a disability or long-term health condition.

Eating well is equally important and if you need advice, your GP or a dietician will be able to advise you.

For more information on all aspects of living with Charcot-Marie-Tooth disease, download the guide Living with CMT from the Charcot-Marie-Tooth UK charity.

Contact a family – a website where you can find support and local services near to you. There are also forums where you can talk to people who are in similar positions

Charcot-Marie-Tooth Association Facebook Group – an online support group based in America, offering an opportunity for people to share experiences

Charcot-Marie-Tooth UK – the national charity for people with CMT. It offers information, publications and support to people with CMT, their friends, family and carers

Contact – a charity dedicated to families with disabled children

Disabled Living Foundation – a charity that provides advice and information on independent living and equipment that can assist people with a disability

Genetic Disorders UK – a charity that provides information, advice and support to families and individuals affected by a genetic disorder

Muscular Dystrophy UK – provides practical, medical and emotional support to people with all forms of muscular dystrophy and has a wealth of excellent information and publications that are relevant to people with CMT

Newlife – a charity for disabled children and their families, providing care and support services

NHS – provides information on all medical aspects of CMT, with access to other related topics about health and wellbeing

Pain Support – provides resources and support for people living with chronic pain

Rare Disease UK – a charity that campaigns for the wellbeing and care of people affected by a rare disease