Motor neurone disease - Diagnosing motor neurone disease

You should visit your GP if you notice the symptoms of motor neurone disease.

After an initial examination, they may refer you to a neurologist (a specialist in disorders of the nervous system) for a further opinion and possibly tests.

However, diagnosing motor neurone disease can be difficult when the condition is in its initial stages because many of the early symptoms can be caused by other more common health conditions, such as:

• a trapped nerve – wear and tear of the bones that make up the spine can sometimes result in nerves becoming trapped and compressed under a section of the spine
• peripheral neuropathy – part of the nervous system becomes damaged by another health condition, most commonly type 2 diabetes

Initial testing

Motor neurone disease is called a clinical diagnosis. This means it is most often made by a specialist on the basis of the symptoms and a physical examination.

There is no single way to check for motor neurone disease, but various tests may be used to rule out other possible causes of your symptoms. These tests may include:

• blood tests – these can be used for several reasons, such as checking that certain organs, such as your thyroid, are working normally
• magnetic resonance imaging (MRI) scan – this provides a detailed image of the inside of your brain and spinal cord
• electromyography (EMG) – this measures the electrical activity in your muscles, which shows how well your motor neurones are working
• nerve conduction test – this is similar to an EMG, but measures how quickly your nerves can conduct an electrical signal
• lumbar puncture – a sample of spinal fluid is removed for testing to exclude an inflammatory nerve condition 
• muscle biopsy – in rare cases, a small sample of muscle is removed for testing to help determine if the problem lies in the muscles or nerves

Confirming the diagnosis

Sometimes the diagnosis of motor neurone disease is clear without the need for any further tests. However, confirming a diagnosis of motor neurone disease can sometimes be time-consuming, occasionally taking more than a year.

There are many reasons why there may be delays. It may be that the initial symptoms are not thought to be serious, or they are not recognised as being related to the nervous system and a neurologist is not initially consulted.

Sometimes even a neurologist needs time to be certain that your symptoms aren't caused by another condition, especially if it is a treatable one.

A diagnosis of motor neurone disease can only be made if the symptoms are getting worse (progressive). 

Receiving the diagnosis

Being told that you have motor neurone disease can be emotionally devastating and the news can be difficult to take in. Many people diagnosed with the condition go through the classic stages of the grieving process, which are:

• denial – you may initially disbelieve the diagnosis and think there's nothing wrong with you or that your doctor has missed another diagnosis
• anger – you may feel angry towards friends, family or medical staff
• bargaining – sometimes, people with terminal conditions try to "bargain" with their doctors, asking for any sort of treatment that can prolong their life
• depression – you may lose all interest in life and feel that your situation is hopeless
• acceptance – you come to terms with the diagnosis, the feelings of depression pass, and you begin to plan for the rest of your life

If you've been diagnosed with motor neurone disease, talking to a counsellor or psychiatrist may help combat feelings of depression and anxiety.

Taking antidepressants or medicines to reduce anxiety may also help as you move through the stages of the grieving process. Your care team can advise you about this.

You may also find it useful to contact the Motor Neurone Disease Association, which is the leading UK charity for people affected by the condition.

The Motor Neurone Disease Association can give you practical advice, support and information about living with motor neurone disease and how to cope with the emotional impact of being diagnosed. They also run a network of specialist hospital clinics across the UK, where a neurologist who is an expert in motor neurone disease can provide advice.