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Charcot-Marie-Tooth Disease

Everything you need to know about living well with Charcot-Marie-Tooth disease

  • Introduction
  • Types
  • Symptoms
  • Daily Living
  • Support
  • Glossary

Introduction

If you think you or your child may have symptoms of Charcot-Marie-Tooth disease, or you have received a Charcot-Marie-Tooth disease diagnosis, this guide may help you understand more about the condition.

Below, we explore what causes Charcot-Marie-Tooth disease, where to find further help for Charcot-Marie-Tooth disease, and ways to live well with this condition. Remember, you are not alone, and there are many sources of support available to you.

If you are concerned about any of the symptoms or information you read here, please consult your GP.

Introduction

What is 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.

What causes Charcot-Marie-Tooth disease?

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. Charcot-Marie-Tooth may be inherited as follows:

• If one parent has a dominant form of CMT - the faulty gene from one parent overrides the normal gene from the other parent

• If both parents have a recessive form of CMT, they each carry a faulty gene but may or may not actually have the condition themselves

• If the mother has X-linked CMT (i.e. the affected gene is contained in the female X chromosome)

• If the father has X-linked CMT – only female offspring will be affected

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.

Did you know... "Charcot-Marie Tooth disease is quite rare - only 25,000 people in the UK have it, but it is the most common condition of its type."

Types of Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth disease comes in many forms.

There are thought to be two main types of Charcot-Marie-Tooth disease, either axonal, where damage is occurring to the axon of the nerves, or demyelinating, which sees damage to the myelin sheath that protects the nerve’s axon or core.

Within this broad classification though, there are many more types defined. Researchers have discovered over 80 genes that cause Charcot-Marie-Tooth disease, and so technically each gene affected leads to its own ‘type’.

Introduction

Here, we list the most common Charcot-Marie-Tooth disease types that people are diagnosed with:

• CMT 1 - myelin sheath slowly breaks down

• CMT 2 – a less common and usually less severe type than CMT 1, caused by defects in the axon

• CMT 3 – this rare type is also known as Dejerine-Sottas syndrome. Myelin sheath damage causes severe symptoms that usually develop during early years as a child

• CMT 4 – similar to CMT 3 in that it is quite rare and affects the myelin sheath, this type develops in childhood and can cause progressive disability with some people becoming unable to walk

• CMT X – more common in men than women

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

Did you know... "CMT is a genetic, inherited, neurological condition that affects the nervous system."

Symptoms of Charcot-Marie-Tooth Disease

Here, we suggest common symptoms of Charcot-Marie-Tooth disease and early signs that may be spotted in children.

Everyone with a form of Charcot-Marie-Tooth disease will experience their condition differently, depending on what causes Charcot-Marie-Tooth disease in their case. If multiple people within a family are affected by the disease, they may all have different symptoms, that start to develop at different times and which progress differently. Some may have few symptoms at all.

Sometimes a child may be diagnosed with the disease first, with their parent unaware they have the condition as they experience no or few Charcot-Marie-Tooth disease symptoms. It is believed that many people with mild symptoms of Charcot-Marie-Tooth disease may be living without diagnosis or treatment, such is the varying severity of the condition.

Introduction

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.

Common symptoms that may develop throughout life include:

• Loss of muscle mass and strength

• Lack of feeling/sensation in certain areas of the body

• Unusual feet, i.e. high arch, flat-footed, hammer toes

• Weak ankles

• Poor circulation in extremities, which leads to cold hands and feet.

• Unusually shaped legs due to muscle wastage

• Tiredness

• Tremor (uncontrollable shaking)

• Scoliosis (abnormal curvature of the spine)

• Difficulty with speech and swallowing (dysphagia)

• Reduced hand strength or mobility

• Neuropathic pain

• Musculoskeletal pain

• Mobility problems

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.

Did you know... "A person can carry CMT genes but not have the disease."

Living with Charcot-Marie-Tooth Disease

Many people who have been given a diagnosis of Charcot-Marie-Tooth disease are able to live full and active lives.

Learning that you or your child have Charcot-Marie-Tooth disease can be difficult to take in and you may need some time to come to terms with living with a long-term condition. Everybody experiences Charcot-Marie-Tooth differently depending on their symptoms and how these affect their day to day life. Here we discuss several aspects of living with Charcot-Marie-Tooth disease, including products that may help with daily living tasks, employment and the type of treatments for Charcot-Marie-Tooth disease that are available.

Introduction

Children living with Charcot-Marie-Tooth disease

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.

Treatments for Charcot-Marie-Tooth disease

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.

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 NRS Healthcare, 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.

• Help with eating & drinking– if gripping cutlery and cups has become challenging, there are a huge number of adapted aids that can help including:

Large handled cutlery, Weighted cutlery for tremors, Large handled mugs

• Help with mobility – CMT may affect a person’s mobility in different ways, and you may need advice from a healthcare professional, such as a physiotherapist or occupational therapist, as to what mobility equipment may help you:

Walking stick, Rollators, Wheelchairs, Grab Rail

• Safer bathing, showering and toileting – if you have mobility issues due to muscle weakness or foot problems, daily washing and using the toilet can become difficult. There are many items available that can provide simple support and help prevent falls or accidents:

Bath lift, Shower seat, Toilet frame

• Equipment for children – there is a huge amount of equipment available for children who have varying levels of disability, and here are some key aids that may help with everyday activities:

Toileting, Bathing, Mobility, Eating and drinking

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 NRS Healthcare who can advise on the best equipment to suit your needs.

Contact them by Email: [email protected] 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.

Charcot-Marie-Tooth disease and employment

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.

Charcot-Marie-Tooth disease exercises and diet

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.

Did you know... "Symptoms of CMT include muscle wastage and weakness, loss of sensations and loss of motor skills ability"

Support for Charcot-Marie-Tooth Disease

Remember – you are not alone!

There is a lot of support available for people with long-term health conditions.

Support networks and sources of advice specific to Charcot-Marie-Tooth disease may seem a little thin on the ground due to the condition being relatively rare compared to others, but there are still a number of ways you are able to connect with people in a similar situation, and get help, advice or information.

Here, we list some online communities and places you can go for more support for Charcot-Marie-Tooth disease.

Introduction

Communities

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

Resources

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

Did you know... "CMT is not curable, but there are ways to manage the symptoms and live well with the condition"

Glossary

Unsure what something means? Check out our Glossary section below.

Although we always try to explain things as simply and as clearly as possible, sometimes it’s necessary to use the correct medical terminology.

Medical terms are often known for being tricky to pronounce, and if you’re not an expert in the subject, they can also be a little difficult to understand. Below, we’ve put together a list of terms used on this page along with a brief explanation of what they mean to help make your understanding of Charcot-Marie-Tooth disease as straightforward as possible

Introduction

Axon

- the central part of a nerve, which carries the messages (electrical impulses) from and to the brain

Chromosomes

- these carry our genetic information (DNA) and are inherited from our parents

DNA

- Deoxyribonucleic Acid that exists within our chromosomes and determines everything about how we look and how our bodies work

De novo mutation

- spontaneous mutation of a gene, that is not inherited and seemingly occurs out of the blue

Dejerine-Sottas syndrome

- a type of Charcot-Marie-Tooth disease that occurs between the ages of 10 and 30 years old, causing weakness of the legs, lack of sensitivity to heat, and eventually problems with walking

Dominant

- a pattern of inheritance that means only one parent has to pass on a faulty gene to their child for the particular genetic disorder to develop

Faulty gene

- a mutation or mistake within a person’s genes, which may be inherited from a parent or occur spontaneously

Foot drop

- muscle weakness that affects a person’s ability to lift their foot near the toes, which may result in them having to drag the foot along the floor when walking

Genes

- genes are sections of DNA that contain instructions for how the body should build proteins, and which therefore determine lots of characteristics such as what we look like physically and how our muscles work

Inheritance pattern

- genes, and therefore genetic disorders, are often inherited in one of five ways or patterns, which determine how likely a child is to inherit the genes from their parent/s

Motor skills

- actions and movements that we learn as babies, which involve the brain and muscles working together to achieve an outcome, such as walking or running

Musculoskeletal pain

- this is a type of pain caused by injury to body tissue such as muscles, tendons or ligaments, as well as bones and joints

Myelin sheath

- a substance that protects the axons in nerve cells to ensure the messages (electrical impulses) that travel through the nerves are protected

Neuropathic pain

- this is a type of pain caused by damage or injury to the nervous system, which may feel like a burning or stabbing sensation

Peripheral nervous system

- nerves in the body, that are outside the brain/spinal cord (the ‘central nervous system’) which tells your limbs and muscles to work, and enable you to feel sensations such as hot, cold, etc

Recessive

- a pattern of inheritance that means a genetic disorder may develop if both parents have the faulty gene and pass these on to their child

Scoliosis

- a condition where the spine curves to the side, which is usually noticeable around teenage years and may or may not need to be treated

X-linked

- a pattern of inheritance where a gene (or faulty gene) is passed on via the X chromosome, which means it is passed on from mother to son and therefore is more likely to affect males rather than females


Last updated on 05/02/2019

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