Motor Neurone Disease (MND)

Path to diagnosis of MND

Diagnosing motor neurone disease is often a difficult and lengthy process. This is for several reasons. Firstly, MND is comparatively rare. Secondly, it affects each person in a different way; there is no definitive symptom which would immediately suggest the diagnosis. In addition, the early symptoms can be quite mild and could be caused by various other conditions. These need to be ruled out before a diagnosis of MND is given, and no simple test exists to diagnose MND. Several people talked about their tests as a 'process of elimination'. Progression of symptoms over time provides evidence to support the diagnosis.

Many of the people we talked to had been experiencing symptoms for months or even years before finally getting a diagnosis. Some lived with their symptoms for a long time before deciding to go to their GP, perhaps putting them down to stress, old age, or injury. (See 'First symptoms of MND'). Most people, once they went to their GP, felt they had been referred promptly to a specialist in neurological conditions. Looking back, some people thought they were lucky to have been diagnosed so quickly. However, not all were referred to a neurologist so quickly.

MND is a rare condition and most GPs will only see one or two people with it in their careers, so they are likely to think first of other conditions or causes for the symptoms. One woman said her GP did not refer her straightaway because he thought she was stressed, which she also thought was a likely explanation. Some said their GP reassured them it was probably nothing serious and took a while to refer them. A few people were referred to a specialist in another area such as ear, nose and throat (ENT) or other specialties.

The MND Association has worked with The Royal College of General Practitioners (RCGP) to assist early diagnosis of MND. Their Red Flag tool is designed to help GP's make accurate referrals and therefore reduce the time to diagnosis (see their website for more details).

Once referred to a neurologist, several tests will be carried out to rule out other conditions (such as multiple sclerosis, spinal muscular atrophy or myasthenia gravis) and look for evidence of MND. Some people were admitted as an inpatient and had these tests within a couple of weeks. Others waited several months between various test appointments.

One important test is EMG (electromyography), which involves using fine needles to record naturally occurring electrical impulses in the nerves. Muscles which have lost their nerve supply as a result of MND show an abnormal pattern. 

Nerve Conduction Tests: may be carried out at the same time as the EMG. An electrical impulse is applied through a small pad on the skin. This measures the speed at which your nerves carry electrical signals.

Transcranial Magnetic Stimulation (TMS): may be carried out at the same time as a nerve conduction test. It is designed to measure the activity of the upper motor neurones. Its findings can help in the diagnostic process.” (MND Association 2017)

Blood tests can detect a substance called creatine kinase in the blood, which is sometimes raised in MND but also in other conditions. MRI (magnetic resonance imaging scan) and lumbar punctures (taking a sample of fluid from the spine) cannot in themselves confirm MND, but may be used to look for other conditions which can mimic the symptoms of MND.

One woman chose not to have MRI because she had had one before and found it 'very scary', and her consultant felt he already had enough information to be pretty sure about the diagnosis. Lumbar puncture is not commonly used, but may be useful for people whose initial symptoms are not typical and who may have a different condition. Some people who had a lumbar puncture had a bad reaction, developing a severe headache afterwards, but one man felt lucky to have avoided this. People felt it was important to get as much information as possible beforehand from clinical staff about what to expect, to help them prepare for the procedure.

Some people were given intravenous immunoglobulin (IVIG). In some rare diseases of nerves (for example conduction-block neuropathy) the immune system becomes directed against motor nerves and damages them in a way that can at first be hard to distinguish from MND. IVIG can restore the immune system leading to recovery of nerve function. Unfortunately IVIG has no effect on the course of MND. 

Several people were referred to another neurologist before their diagnosis was confirmed. Not all neurologists are specialists in MND and they may want to ask a colleague for a second opinion. Some people waited several months between appointments. Some chose to get a second opinion, either through the NHS or privately. The frustration and anxiety of waiting for appointments and waiting for a diagnosis could be considerable.

Several people thought that doctors had suspected they had MND but had not told them straightaway. Although people realised doctors might be trying to protect them and not make them worry unnecessarily, many felt it would be better if doctors shared their uncertainties more openly with patients.

Some people said their neurologist asked them what condition they thought they might have. However, a few felt this was like a 'guessing game' and were upset by it. 

A few people felt they had been given false hope when doctors reassured them it might not be MND or emphasised the uncertainty of the diagnosis. Others were comforted by uncertainty - one woman was pleased when the second consultant she saw said the diagnosis was only 97% certain rather than 100%.

One woman who initially suspected she had MND was told it might be spinal muscular atrophy. She felt she would have preferred to have known it was MND straightaway, even though she thought it would have made little difference to how she dealt with it psychologically.

Some people were upset to discover their likely diagnosis almost by accident, for example getting a letter signed by the MND clinic co-ordinator asking them to come for an appointment. One man went to an appointment with a consultant holding one of his regular clinics and said, “While I was getting dressed again, my wife asked him what his speciality was. And at that moment we found out that this was an MND clinic.” A woman who thought her husband might have MND had her suspicions confirmed when she looked at the file on the neurologist's desk while he was examining her husband in another room.

There are several types of MND, some of which are less common, including PLS (primary lateral sclerosis) and PMA (progressive muscular atrophy) - see footnote. It can take some time for specialists to determine whether someone has one of these rare forms, so sometimes people had a diagnosis of MND which was later revised, or the diagnosis remained unclear for some time. 

In about 5-10% of people, there is a family history of the condition (MND Association 2017), indicating that the disease is caused by a variant of a gene which is passed through the generations. This is known as inherited or familial MND. (See 'Possible causes of  MND'). People who had seen other family members with the condition were quick to spot similar symptoms in themselves and to seek diagnosis. One woman whose father and uncle had died of MND was diagnosed within three months of first noticing symptoms, which she thought was unusually fast. Professionals alerted to a family history of MND may also be able to confirm the diagnosis more quickly.

One man whose brother had died of MND did not yet know it was the inherited form, and his symptoms were quite different to his brother's, so a connection was not made straight away. It was only when he was diagnosed that they realised it ran in the family. (See Interview 34 - Ken's story). 

Footnote: less common types of MND diagnosis

A few people diagnosed with MND will be told they have a less common form of the condition such as PLS (primary lateral sclerosis) or PMA (progressive muscular atrophy). PLS affects only the upper motor neurones, and PMA only the lower motor neurones. The first symptoms of these forms are very similar to other more common forms of the condition, so in the early stages it can be difficult to distinguish them. In PLS, legs, hands or speech can be affected, as well as sense of steadiness in walking, and in PMA it is usually hands or legs. People with these forms generally live longer than people with more common forms of MND, but they share many of the same problems of increasing disability. See our resources section for further information about the symptoms and progression of these forms.

The MND Association provides a range of information sheets, including content about symptom management and 2C: Primary Lateral Sclerosis and 2D: Progressive Muscular Atrophy.

Last reviewed August 2017.
Last updated August 2017.


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