Diagnosis and prognosis
Diagnosis and prognosis
Motor neurone disease can be extremely difficult to diagnose for several reasons:
- it is classified as a rare disease and not seen regularly by practitioners
- early symptoms could be hard to detect as they can be quite mild
- it can be some time before an individual is concerned enough to see their GP
- the disease affects each individual differently
- there may be an element of waiting for progression of symptoms to indicate MND
- it is a clinical diagnosis and this requires the elimination of other conditions that mimic MND.
Below, a health care professional explains the complex nature of diagnosing MND.
The person may be sent for a series of diagnostic tests that may eliminate other conditions. These tests may include:
- Blood tests: They are used to screen for inflammatory conditions that could mimic the symptoms of MND
- Electromyography (EMG): This is also known as the needle test. Regarded as an important MND diagnostic test, it involves taking readings from each limb and also throat muscles (bulbar). When muscles lose their nerve supply, their electrical activity is different from normal healthy muscles. And even if that particular muscle is as yet unaffected, this test can detect abnormalities
- Nerve Conduction Tests: An electrical impulse is applied through a small pad on the skin. This measures the speed at which nerves carry electrical signals
- Magnetic Resonance Imagery (MRI) scans: An MRI scan will not diagnose MND, rather it is used to eliminate other conditions which can mimic symptoms of MND. Damage caused by MND is not shown on this scan.
Red Flags tool
The MND Association worked with The Royal College of General Practitioners (RCGP) to create a Red Flag tool for MND, which is designed to improve timely referrals to neurology and therefore speed up the time to accurate diagnosis.
Listen to what people have said about their diagnosis journey.
Unfortunately, there is currently no cure for MND and as it is a progressive disease, people who have MND do not get better. The disease also varies greatly between individuals so it is very difficult to predict what symptoms they may experience or how long they might be expected to live. Once the diagnosis has been made, the individual should be supported and cared for through a multi-disciplinary approach. There is evidence (NICE 2016) that shows care delivered through a multi disciplinary team can extend life.
Genetics and research
A small proportion of people (5 – 10%) with MND will have an inherited form of disease. These rare inherited forms of MND are caused by a mistake in the genetic code that is passed down from one generation to the next.
The identification of MND disease-causing genes could provide clues to the underlying mechanisms of MND. The MND Association is funding research that uses new technology to hunt for these genes.
“Genetics underlies everything the body does and so I think that by studying genes we’ll find the basic mechanisms that lead us to have MND.”
Ammar Al-Chalabi, Professor of Neurology and Complex Disease Genetics, King’s College London