Motor Neurone Disease

About this resource

This resource has been developed for you by the Royal College of Nursing (RCN) in conjunction with the Motor Neurone Disease Association and is designed to offer you support in your care for people living with motor neurone disease.

Who is it for?

This resource is for any registered nurse, student nurse, health care assistant (HCA) or assistant practitioner working in any health care setting or specialism.

Why was this resource developed?

MND is fatal and progressive; families, carers and health and social care professionals must respond to complex and increasing care needs. We aim to give you an understanding of your role in caring for people with MND and an appreciation of the significant impact this condition has on people living with the disease. Both of these will help inform your practice. You can work through this resource all at once or in ‘bite sized’ pieces of learning whenever it is convenient for you.

Learning outcomes

After completing all the sections, you should:

• have an improved understanding of what MND is, and the red flags for its diagnosis
• have increased awareness of the symptom management and treatments that are available
• appreciate the importance of coordination and a multi-disciplinary approach to achieving good care for people living with MND
• recognise the importance of keeping and sharing accurate records with your colleagues in the multidisciplinary team
• have explored the importance of advance planning and timely support for changing symptoms
• have considered the impact of a diagnosis of MND on a person and their family and carers
• know how to look after yourself as a professional when nursing during this and other challenging cases
• know where to go for further information

What is motor neurone disease?

The term motor neurone disease (MND) or Amyotrophic Lateral Sclerosis (ALS) describes a group of related diseases affecting the motor nerves or neurones in the brain and spinal cord, which pass messages to the muscles telling them what to do. This means messages gradually stop reaching the muscles, which leads to weakness and wasting. MND can affect how a person with the condition walks, talks, eats, drinks and breathes. However, not all symptoms necessarily happen to everyone and it is unlikely they will all develop at the same time, or in any specific order.The French neurologist Jean-Martin Charcot first described motor neurone disease in 1874. MND is the commonly used term in the UK, but in other parts of the world, like America and parts of Europe, it is known as amyotrophic lateral sclerosis. Although there is currently no cure for MND, symptoms can be managed to help achieve the best possible quality of life for people living with the disease.

Types of MND

There are four main types of MND that we know about. It’s useful to know the different types, although it’s not always possible to determine which type an individual has.

Amyotrophic lateral sclerosis (ALS)

This is the most common form, with both upper and lower motor neurone involvement. This form of the disease is characterized by weakness and wasting in the limbs. An individual may notice they are dropping things, or tripping when they walk. Life expectancy is two to five years from when the first symptoms begin.

Progressive bulbar palsy (PBP)

Affecting about a quarter of people with MND, PBP involves both upper and lower motor neurones. Symptoms may include slurring of speech or difficulty swallowing. Life expectancy is between six months and three years from the onset of symptoms.

Progressive muscular atrophy (PMA)

PMA affects only a small proportion of people and causes damage to the lower motor neurones. Early symptoms may be noticed as weakness or clumsiness of the hands or feet. On average, people usually live for more than five years.

Primary lateral sclerosis (PLS)

This is a rare form of MND with people experiencing stiffness and clumsiness in the hands or legs, or speech problems. Average life expectancy may be more than 10 years although it may be life-limiting.

Kennedy’s Disease

Kennedy’s Disease and MND are quite similar, and can cause confusion during diagnosis. It typically affects men, although women carry the defective gene. In rare cases, women may develop symptoms, but these are usually milder than those experienced by men. The main symptoms of Kennedy’s disease in women are mild muscle cramps and fatigue. Little is known about Kennedy’s disease in women and research is currently underway. Although not classed as MND, it is included in the conditions supported by the MND Association.

Diagnosis and prognosis

Diagnosis and prognosis

Diagnosis

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.

Diagnostic tests

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.

Healthtalk.org – Motor Neurone Disease (MND) – Path to diagnosis

Prognosis

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

Symptoms of the disease

Symptoms of the disease

MND is a progressive disease that can have an impact on an individual’s ability to walk, talk and limit their capacity to live independently. The disease varies enormously from person to person, and the symptoms described here are not always seen in everyone.Initially, symptoms of MND may be subtle and can be mistaken for other unrelated conditions. The muscles first affected tend to be those in the hands, feet and mouth, although this is dependent on which type of the disease the person has. The first symptoms normally occur in the arm or leg, and this is true of around two-thirds of those with the disease. These initial symptoms are usually painless.

Symptoms can include:

Limb-onset

• a weakened grip, which can cause difficulties picking up or holding objects
• weakness at the shoulder, making lifting the arm above the head difficult
• tripping up over a foot because of weakness at the ankle or hip
• widespread twitching of the muscles (fasciculations) or muscle cramps
• visible wasting of the muscles with significant weight loss.

Bulbar-onset

For around a quarter of those with the disease, they may initially experience problems affecting muscles used for speech or swallowing. Symptoms can include:

• increasingly slurred speech (dysarthia)
• increasing difficulty swallowing (dysphagia).

Respiratory-onset

MND can start by affecting the lungs, but this is very rare – only in around 3% of cases. The symptoms may include breathing difficulties and acute shortness of breath.

Muscular symptoms

As the disease progresses, the limbs become weaker and the muscles may appear progressively wasted. The muscles may also become stiff – this is known as spasticity.

Speaking and swallowing difficulties

Around 80% of people with MND will at some point experience speech difficulties, and two thirds will experience problems with swallowing. They may also experience choking episodes.

Saliva problems

Due to reduced swallowing, there may be excess saliva which can cause drooling. Alternatively saliva can be thicker than normal, making it difficult to clear from the chest or throat, as the muscles that control coughing have been weakened.

Excessive yawning

MND can cause episodes of uncontrollable, excessive yawning, even if the individual is not tired. This can sometimes cause jaw pain.

Emotional Lability

It can be quite common for a person to have episodes of sudden uncontrollable crying, or, more rarely, laughter. There is often no connection between these episodes and a person’s actual emotional state. It is an response caused by the effects of MND. Doctors may call this emotional lability or emotionality.

MND can also cause stress and anxiety, for those living with disease. These may include:

• depression
• insomnia, or
• anxiety.

Changes to cognition and behaviour

Of those people living with MND:

• around 50% are unaffected by cognitive change
• around 35% experience mild cognitive change, with specific deficits in executive functions, language, behaviour and/or social cognition
• up to 15% develop frontotemporal dementia (FTD), either at the same time or after diagnosis of MND.

Cognitive change may manifest in many ways, such as problems with learning new tasks, short-term memory loss, lack of awareness or insight into their problems or their impact, poor concentration, inappropriate social behaviour. Not all of the above may be evident and they can vary in degree. Changes can be subtle and may be masked by movement and speech problems. Some may be part of the normal ageing process.

Behavioural changes may include egocentric or selfish behaviour, loss of interest, apathy, disinhibition, irritability, aggression and absence of insight into these changes. It is important to note that people with no cognitive changes can have profound behavioural abnormalities. And it is unlikely that someone experiencing these changes will know this is happening or can acknowledge the change.

FTD is a more severe form of cognitive and behavioural change manifesting as significant personality change and marked executive dysfunction. Changes in behaviour of the person living with MND can be distressing for people around them, including those who care for them. They may show a lack of empathy, emotional understanding or even lose their inhibitions which can make caring for them more difficult.

Breathing difficulties

As the nerves and muscles that help control the lungs become weakened, breathing becomes harder. A simple activity such as walking can make the individual short of breath. Breathing can be particularly troublesome at night when people are lying down. Any interruption can cause the individual to wake up and lose sleep, resulting in increased drowsiness during the day.

End-stage symptoms

As MND progresses to its final phase, a person may experience:

• increasing paralysis, which means they’ll need help with most daily activities
• significant shortness of breath
• Eventually, even with assistance, breathing may not be sufficient to keep the lungs functioning. Most people with MND become more and more drowsy before falling unconscious due to rises in carbon dioxide levels, causing the heart to stop and then they die.

Secondary symptoms

MND does not affect the senses, so touch, taste, sight, smell and hearing remain intact. Bowel, bladder or sexual function are not directly affected by the disease, however lack of mobility may effect the person’s ability to maintain these functions independently. Some people with MND have additional symptoms that aren’t directly caused by the condition, and some that are related to the stress of living with it.

https://www.mndassociation.org/forprofessionals/information-for-gps/diagnosis-of-mnd/red-flag-diagnosis-tool/