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If you and your GP think that you may have CMT you will be referred to a doctor who specialises in problems of the nerves, known as a neurologist.

Steps to a diagnosis

When you see a neurologist, he or she will follow a number of steps to confirm whether or not you have the condition.

As a first step, your doctor will take a standard patient history, including family history. Your doctor will ask you about your symptoms – what they are like and how long you have had them – and whether any of your family have CMT or have had similar symptoms.
Next, you will be given a neurological examination. Your doctor will look for evidence of muscle weakness in the arms, legs, hands and feet; as well as signs of muscle wasting, reduced reflexes and any sensory loss. Your doctor will also look for any signs of foot problems – such as high arches, hammer toes, inverted heel or flat feet. Any sign of enlarged nerves will also be looked out for (these may be seen or felt through the skin).
If your doctor suspects CMT, you may be asked to undergo some tests called electrodiagnostic tests. These consist of two parts:

Nerve conduction tests – electrodes are placed on your skin over your peripheral motor or sensory nerves. These electrodes will give you a mild electrical shock, which may be uncomfortable. The shock stimulates your sensory and motor nerves and the doctor will be able to measure the speed at which the signal was transmitted and the size of the signal.
Electromyography (EMG) – a needle electrode is inserted through your skin to measure the electrical activity of the muscles

In the UK, the next stage of diagnosis will be to do a genetic test to try and determine which type of CMT you have. Not all the genes to do with CMT have been identified yet, or are commonly available to test, so this test may not be conclusive.

What should happen now?

Once you have been diagnosed the following steps, or similar, should happen. (It may be a good idea for you to print this list out and talk it through with your neurologist and GP to make sure that you get the proper care that you deserve.)

Ideally, you should have the following:

You should receive a copy of your clinic letter. Ideally this will be phrased in such a way that you can show it to your other family members to explain your diagnosis and to help explain to them that it would be a good idea for them to see a specialist too.
Follow up appointment within a month of diagnosis – probably with a specialist nurse, geneticist.
Find out as much information as you can about CMT. A very good source of information is the CMT United Kingdom website, otherwise find out more about finding good health information.
Get a referral to see a physiotherapist with a good understanding of neuromuscular conditions, and also an orthotist if necessary. A system should be put into place so that if you discover other, new, symptoms they can be checked to see whether these symptoms have anything to do with CMT or not.
Within two or three months, you should have a follow up clinic; as part of this clinic you should be given information on:

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Disability living allowance (if needed)
Mobility issues, including the DVLA and Motability
Exams – how to get more time if you are taking GCSE, A’ Levels or other exams, for example.
Occupational help, if necessary.

In the real world, what may happen on diagnosis?

Unfortunately, in the real world, it is quite likely that your diagnosis will be given to you by someone who does not know much about CMT. It is quite likely that you will be told: “CMT is a progressive condition, there is no cure and there are no treatments – go away and live with it”. This is unhelpful and wrong.

CMT can be well managed and well treated. But you may need to knock some heads together to get the care you deserve. Remember, if you are having difficulty getting the treatment you need, contact CMT United Kingdom.

Reacting to your diagnosis

Everyone reacts differently when told they have CMT. Just as the condition affects each person differently, so everyone has a unique reaction to the news. Nobody – not your doctor, partner, family or friends – can tell you what you should or should not be feeling or how you should react.

The important thing to remember is that your emotional response is perfectly normal and could include:

shock
denial
confusion
fear
wanting to avoid the issue
anger
grief
guilt
wanting to tell everyone or no-one
relief.

A feeling of relief upon diagnosis is quite common, as many people with CMT have lived with the symptoms and problems of the condition for many years before discovering it is CMT. Learning that there is a name for the problems experienced over the years can help you to understand and define the symptoms you have been experiencing. Some people call this ‘closure’ and explain that they felt relief on diagnosis to know that the problems they had been living with for years were not symptoms of something more serious.

How you cope with the news of the diagnosis is also up to you. You may want to think about the following five steps:

Take the time you need
Do not rush into making important decisions about your health and life in general. You have time to think about your options and decide what is best for you.

Taking the time you need to make decisions can help you:

feel less anxious and stressed
avoid depression
cope better with CMT
feel more in control.

Get the support you need
When you are ready, talk with your family and friends. and to other people with CMT. These are the people who are going through the same thing as you and who may have ‘been there’ already. They may be able to help you make informed decisions.

CMT United Kingdom runs a number of local groups across the UK; or, why not use the charity’s online Forum to talk to other people coping with the condition.

Talk with your doctor and other medical staff
Try and strike up a good relationship with your doctor and other members of your healthcare team (neurologist, physiotherapist, etc). It will help you feel more satisfied with the care you receive. Research shows it may have a positive effect on symptoms and pain.

If you feel that it would help, get a second opinion.

Seek out information
Many people find that discovering as much as possible about CMT really helps. If this suits you, and it may not, then make sure you look for information that is based on the latest reviewed scientific findings.

Decide on a treatment plan
Work with your doctor and healthcare team to decide on a treatment and care plan that best suits you.

Remember, research shows that most people with a long-term condition, like CMT, do better if they are involved in their healthcare.

About CMT

Diagnosis

Steps to a diagnosis

What should happen now?

In the real world, what may happen on diagnosis?

Reacting to your diagnosis

Top 10 questions to ask your doctor after diagnosis