Motor neurone disease (MND)

Motor neurone disease (MND) is a rare condition that slowly damages parts of the nervous system. It leads to muscle weakness, and the muscles often look visibly wasted.

Amyotrophic lateral sclerosis (ALS) is the most common form of MND.

MND happens when special nerve cells in the brain and spinal cord, called motor neurones, stop working properly and die too early. This is known as neurodegeneration.

Motor neurones control muscle activity like:

• gripping
• walking
• speaking
• swallowing
• breathing

As the disease progresses, some or all of these activities can become harder to do.

Motor neurone disease (MND) doesn't come on suddenly. The symptoms start slowly, over weeks and months. They usually show up on one side of the body first, and then they get steadily worse.

• You have early symptoms of motor neurone disease (MND)

Seeing a specialist as early as possible can help you get the right support. MND usually has 3 stages of symptoms.

Sometimes the early symptoms of motor neurone disease (MND) are mistaken for similar conditions that also affect the nervous system.

In about two-thirds of people with MND, the first symptoms are in the arm or leg. This is sometimes called limb-onset disease. The symptoms include:

• a weakened grip, which can cause problems picking up or holding objects
• weakness at the shoulder, making lifting your arm above your head difficult
• tripping up over your foot because of weakness at your ankle or hip

These symptoms are usually painless. You might also notice widespread twitching of the muscles (fasciculations) or muscle cramps. You might see wasting of the muscles too, with significant weight loss.

In 1 out of 4 cases, the first symptoms affect the muscles used for speaking and swallowing.

These problems might show up first in the muscles that control speech and swallowing. Increasingly slurred speech (dysarthria) is usually the first sign of this type of MND, and it might be misdiagnosed as a stroke.

As the condition progresses, swallowing may become more and more difficult (dysphagia). This might be misdiagnosed as a blockage in the throat.

In rare cases, MND starts in the lungs, instead of reaching them only at the end of the condition. This is called respiratory-onset disease.

In some of these cases, the first symptoms, such as breathing difficulties and shortness of breath, are more obvious.

You might not sleep well and might wake with a headache in the morning. This might be because your body isn't getting rid of the carbon dioxide you normally breathe out.

As motor neurone disease (MND) becomes more advanced, more parts of the body and more body functions are affected. This can make infections, such as chest infections, more likely, and these can make your condition get worse more quickly.

The limbs become weaker, and the muscles in them may get thinner. So the person finds it harder and harder to move the affected limbs.

The limbs may also become stiff. This is called spasticity. Both the muscle wasting and the stiffness can cause aches and pains in the joints.

Speaking and swallowing can become more and more difficult as MND progresses.

Choking episodes can be distressing, but they aren't usually the cause of death.

When swallowing is reduced, extra saliva can build up and cause drooling. Thicker saliva can sometimes be hard to clear from the chest or throat, because the muscles that control coughing have become weak.

Some people with MND have episodes of uncontrollable, excessive yawning. This can happen even when they're not tired, and it can sometimes cause jaw pain.

MND can change your ability to control your emotions. This is more likely when the muscles that control speech and swallowing are weak.

One of the most common signs is sudden, uncontrollable crying or, more rarely, laughter. This is sometimes called emotional lability or emotionality.

Sometimes people with MND have significant difficulties with:

• concentration
• planning
• communication
• behavioural changes.

In these cases the condition is causing a type of dementia (usually frontotemporal dementia).

Up to 15% of people with MND develop a more profound frontotemporal dementia. This usually happens soon after their first muscle-related symptoms, or sometimes before them. Someone with MND might not be aware that there are problems with their behaviour or personality.

Breathing might become less efficient as the nerves and muscles that help control the lungs become more damaged.

You might feel short of breath after everyday tasks like walking up the stairs. Over time, you might become even more breathless when you're resting.

Shortness of breath can become a problem at night. Some people find it difficult to breathe when they're lying down. Others wake in the night because they feel breathless.

As the breathlessness increases, breathing support can help reduce it. This is usually given as non-invasive ventilatory (NIV) support. It can be useful at night to improve your sleep quality, and that can help reduce drowsiness during the day.

As motor neurone disease (MND) moves into its final phase, you might notice:

• increasing paralysis of the body, which means you'll need help with most daily activities
• significant shortness of breath

Eventually, breathing support that doesn't use a tube or surgery won't be enough to make up for the loss of normal lung function. At this stage, more medicine can help to reduce the breathlessness and the anxiety that comes with it. Most people with MND become more and more drowsy before falling into a deep sleep, and they usually die peacefully.

Some people with motor neurone disease (MND) have other symptoms too. The condition itself doesn't directly cause these, but they are linked to the stress of living with it. They can include depression, insomnia and anxiety.

Motor neurone disease (MND) happens when the specialist nerve cells in the brain and spinal cord, called motor neurones, slowly stop working. Doctors don't know why this happens.

One known cause of motor neurone disease (MND) is an error in your genes. About 20% of cases are linked to genetic causes. Half of these genetic cases happen in people who have a family history of MND, and the other half happen in people who don't.

Having a family history of frontotemporal dementia can also raise the risk of inheriting MND.

The gene error affects how well the body's cells work and how long they survive.

If you have a genetic form of MND, there's a chance you could pass the risk of developing MND on to your child. Many factors, age among them, can affect that child's risk of developing the condition.

Not everyone who has the genetic mutation will develop MND in their lifetime. Typically, the longer you live, the more likely you are to develop it.

If one of your parents has MND and there's no other family history of the disease, your risk is slightly higher, at about 1.4%. For the general population, the risk of MND is about 0.3%.

It's unclear why the motor neurones begin to lose function in motor neurone disease (MND). Most experts believe it's a combination of factors that affect either the motor neurones or the cells that support them. There are some theories involving different cell processes, including these:

Aggregates are abnormal clumps of protein that develop inside motor neurones. They're found in nearly all cases of MND and may disrupt the normal working of the motor neurones. An aggregate can also be a sign that the cell is under stress.

The protein most commonly found in these aggregates is TDP-43. It takes part in processing the genetic instructions for the cell, through a molecule known as RNA. Mutations in the gene that codes for this protein (TARDBP) can cause genetic cases of MND.

All cells have transport systems. These move nutrients and other chemicals into the cell and waste products out of it. Research suggests the transport systems in motor neurones become disrupted. Over time, toxic waste can build up in cells as a natural by-product of normal cell activity and ageing.

The body gets rid of toxic waste through waste disposal systems, and these can be affected by ageing and the environment.

Glial cells surround and support motor neurones and provide them with nutrients. When they don't work properly, the motor neurones no longer get the support and nutrition they need to function normally. Their part in MND is still being researched.

Nerve cells use special "messenger chemicals", called neurotransmitters, to pass information between cells. One of them is glutamate. It excites neurones, and one theory is that too much activity through glutamate damages them. Riluzole, a drug used to treat MND, lowers the level of neuronal activity by blocking the action of glutamate.

Mitochondria are the "batteries" of cells. They provide the energy a cell needs to carry out its normal function. Mitochondria in the motor neurones of people with MND might not work properly.

Speak to your doctor if you notice the first symptoms of motor neurone disease (MND).

After hearing about your symptoms and doing an initial exam, your doctor might refer you to a neurologist (a doctor who specialises in conditions affecting the brain and nervous system).

Diagnosing MND can be difficult in the early stages. Many of the first symptoms can be caused by other, more common health conditions, like:

• a trapped nerve, where wear and tear of the bones in the spine can sometimes cause nerves to become trapped under the spine
• peripheral neuropathy, where part of the nervous system is damaged by another condition, like type 2 diabetes
• swallowing difficulties caused by narrowing or inflammation of the gullet
• speech difficulties due to problems with the voice box
• damage to the brain by stroke or other neurological conditions like multiple sclerosis (MS) in younger people

Motor neurone disease (MND) is usually diagnosed by a neurologist, based on your symptoms and a physical examination.

There's no single test for MND. Doctors may use several tests to rule out other possible causes of your symptoms. These might include:

• blood tests, which can be used for several reasons, like checking that your organs are working, or looking for a marker of muscle damage (creatinine kinase)
• magnetic resonance imaging (MRI) scan, to give a detailed picture of your brain and spinal cord
• electromyography (EMG), which measures the electrical activity in your muscles and shows how well your motor neurones are working and connecting to the muscles
• nerve conduction test, which is similar to an EMG but measures how quickly your nerves can conduct an electrical signal
• lumbar puncture, where a sample of spinal fluid might be tested to exclude an inflammatory or nerve condition caused by an infection
• muscle biopsy, where in rare cases a small sample of muscle might be removed for testing to find out whether the problem lies in the muscles

Gene tests can be used to support the diagnosis in some people. They might explain why a person has developed the disorder. Your doctor can give you more information about specialists who can help with genetic testing.

Motor neurone disease (MND) can take a while to diagnose, and there are several reasons for that. The first symptoms may not seem serious. Or they may not be recognised as coming from the nervous system, so you don't see a neurologist at first.

Sometimes the diagnosis of MND is clear without any further tests. At other times, confirming it can take time, even for an experienced neurologist. They may need to watch you over a period to be sure, especially when the condition is progressing slowly. MND can only be diagnosed if the symptoms are clearly getting worse (progressive).

Hearing that you have MND (motor neurone disease) can be devastating, and it's often hard to take the news in at first.

After the diagnosis, you should be given contact details for an MND care specialist. These are health professionals with specialist experience in caring for people with MND. They can give you and your family extra support after the diagnosis and for as long as you live with the illness.

Talking to a counsellor or a trained clinical psychologist might help with feelings of depression and anxiety.

It's not unusual to have thoughts of taking your own life, although very few people with MND go on to do this. You should talk to your doctor about these thoughts.

Antidepressants or medicines to reduce anxiety may help. Your care team can tell you more about this.

There's no cure for motor neurone disease (MND), but there are treatments that can help relieve the symptoms.

A team of health professionals will work together to care for you. This team usually includes:

• a neurologist and an MND care specialist
• a specialist in breathing (respiratory specialist)
• physiotherapists to advise on mobility aids
• occupational therapists to assess whether changes are needed in the place where you live
• a speech and language therapist to help with communication and swallowing
• dieticians to support nutrition

As the condition advances, you might also need palliative care.

Riluzole is the only licensed medicine in the UK that has been shown to help people with motor neurone disease (MND) live longer. It's thought to slow the damage to the motor neurone cells by making them less sensitive to glutamate, a chemical that carries messages between nerves.

In medical research, riluzole extended survival by 2 to 3 months on average.

The side effects are usually mild. They can include nausea, tiredness and, less commonly, a rapid heartbeat.

Very rarely, riluzole has been known to cause liver damage. If your doctor prescribes it, you'll need blood tests for the first few months to check that your liver is working properly. If you've had significant liver disease, riluzole may not be suitable for you.

Treatments are available that can help relieve many of the symptoms of motor neurone disease (MND) and improve your quality of life.

Physiotherapy can help with muscle cramps. In some cases a medicine called quinine can help too. The cramps often ease later in the condition.

Quinine can cause side effects like:

• hearing and vision problems
• tinnitus (the perception of noise in one ear, both ears or inside the head)
• vertigo (a sensation that you, or the environment around you, is moving)

Quinine will usually only be used if the potential benefits are thought to outweigh the risks.

Muscle stiffness, also known as spasticity, can be treated with a medicine like baclofen. It helps relax the muscles. Side effects can include increased weakness or tiredness.

There are medicines for drooling of saliva. One option is a hyoscine hydrobromide skin patch.

Other medicines used to control drooling include:

• amitriptyline
• atropine eye drops applied to the tongue
• glycopyrronium
• botulinum toxin injections into the glands that produce saliva

Not everyone with MND will have significant speech problems. For people who find it hard to communicate, there are ways to help. A speech and language therapist can teach you techniques to make your voice as clear as possible.

As the disease progresses, you may need assistive technology to help you communicate. A range of communication aids is available, and your therapist can tell you which ones will work best for you.

Not everyone with MND will have significant swallowing problems (dysphagia). For those who do, it can get in the way of normal eating and drinking, and this can leave you feeling more tired. If food or fluid goes down the wrong way into the lungs, it can cause chest infections (called aspiration).

One common treatment for dysphagia is a feeding tube known as a gastrostomy tube. It is placed surgically into your stomach through a small cut on the surface of the stomach. It shouldn't restrict your daily activities, and you can carry on bathing and swimming if you wish.

Ideally you should have the tube put in before you become too frail. That way you get the best out of it, and you give yourself the best chance of recovering from the procedure.

If you have thick secretions (fluids) that you can't cough up yourself, medicines like carbocisteine and acetylcysteine might help.

As MND progresses, the muscles that help you breathe become weaker. Your breathing becomes more and more shallow, and your cough gets weaker. Breathing difficulties usually develop gradually. They're sometimes the first sign of MND, although this is rare.

It's important to talk to your doctor about breathing problems before they happen. Your doctor or neurologist should be able to refer you to a respiratory (breathing) specialist or a palliative care specialist, depending on your needs.

You might benefit from non-invasive mechanical ventilation (NIV) to support your breathing. Room air (not oxygen) is sucked into a small box. It's filtered and then gently pumped into the lungs through a face mask or nasal tube each time you take a breath. NIV may not be suitable for everyone with MND, and your medical team can talk through the options with you.

Many people with MND draw up an advance decision (sometimes called an advanced directive). This is where you set out your treatment preferences ahead of time, in case you can't communicate your decisions later because you're too ill.

Issues that can be covered by an advance decision include:

• whether you want to be treated at home, in a hospice or in a hospital once you reach the final stages of MND
• the type of medicine you'd be willing to take in certain circumstances
• whether you'd be willing to consider a feeding tube if you were no longer able to swallow food and liquid
• if you have respiratory failure (loss of lung function), whether you wish to have artificial resuscitation, like having a permanent breathing tube inserted into your throat (known as a tracheostomy)
• whether you'd be willing to donate any of your organs after you die (the brain and spinal cord of people with MND are very important for ongoing research)

Your care team can give you more information and advice about making an advance decision.