It's not known why this happens. Having a close relative with motor neurone disease, or a related condition called frontotemporal dementia , can sometimes mean you're more likely to get it. You should see a GP if you have possible early symptoms of motor neurone disease, such as muscle weakness. It's unlikely you have motor neurone disease, but getting a correct diagnosis as early as possible can help you get the care and support you need. You should also see a GP if a close relative has motor neurone disease or frontotemporal dementia and you're worried you may be at risk of it.
The GP may refer you for genetic counselling to talk about your risk and the tests you can have. It can be difficult to diagnose motor neurone disease in the early stages. There's no single test for it and several conditions cause similar symptoms.
There's no cure for motor neurone disease, but treatment can help reduce the impact the symptoms have on your life. Moving around, swallowing and breathing get increasingly difficult, and treatments like a feeding tube or breathing air through a face mask may be needed. Motor neurone disease is a severely life-shortening condition for most people. Life expectancy for about half of those with the condition is three years from the start of symptoms. However, some people may live for up to 10 years, and in rarer circumstances even longer.
Living with the disease is extremely challenging and often a terrifying possibility before the diagnosis is made.
However, it's not necessarily as bleak as people imagine. With strong community and specialist support, many people can maintain some independence for a significant part of the condition's course, and experience a quality of life they may not have imagined was possible at the time of their diagnosis.
The end of life for someone with motor neurone disease isn't usually distressing and is most often in their own home. In most cases, a person with the condition will die in their sleep as the end stage of gradual weakness in their breathing muscles.
Although some people with the condition will have swallowing problems, they won't choke to death. The Motor Neurone Disease Scotland is the leading Scottish charity for people affected by the condition.
MND Scotland can give you information, practical advice and support about living with motor neurone disease and coping with the emotional impact of being diagnosed. This helps scientists look for better ways to prevent and treat this condition.
You can opt out of the register at any time. Find out more about the register. The initial symptoms of motor neurone disease often affect certain areas of the body before eventually becoming more widespread. It's important to visit your GP as soon as possible if you have the typical early symptoms of motor neurone disease.
There's evidence that specialist care can improve overall survival. The initial symptoms of motor neurone disease usually develop slowly and subtly over time. It can be easy to mistake early symptoms for those of several unrelated conditions that affect the nervous system. In about two-thirds of people with motor neurone disease, the first symptoms occur in the arm or leg.
This is sometimes called limb-onset disease. These symptoms include:. These symptoms are usually painless and may be accompanied by widespread twitching of the muscles fasciculations or muscle cramps, and there may be visible wasting of the muscles with significant weight loss. In a quarter of cases, problems initially affect the muscles used for speech and swallowing. Increasingly slurred speech dysarthria is usually the first sign of this type of motor neurone disease, and may be misdiagnosed as a stroke.
As the condition progresses, it may become increasingly difficult to swallow dysphagia , and be misdiagnosed as a blockage in the throat. In extremely rare cases, motor neurone disease starts by affecting the lungs, rather than affecting them at the end of the condition. This is called respiratory-onset disease. In some cases the initial symptoms are obvious, such as breathing difficulties and shortness of breath.
In other cases the symptoms are less noticeable, such as waking up frequently during the night because the brain is temporarily starved of oxygen when lying down. This can make the person feel very tired and unrefreshed the next morning, sometimes with a headache. As the disease becomes more advanced, the differences between the various types of disease are less noticeable as more parts and functions of the body are affected.
The rate at which the condition spreads varies, but generally remains the same for an individual that is, it doesn't speed up, but doesn't slow down either. The limbs become gradually weaker and the muscles in the limbs may appear progressively wasted. As a result, the person will find it increasingly difficult to move the affected limbs.
The muscles may also become stiff. This is known as spasticity. Both muscle wasting and stiffness can also cause joint aches and pains. At least two-thirds of people with motor neurone disease find that speaking and swallowing become increasingly difficult as the condition progresses. However, although choking episodes can be distressing they aren't the cause of death. Reduced swallowing can cause an excess of saliva, sometimes with drooling.
Thicker saliva may sometimes be difficult to clear from the chest or throat due to weakening of the muscles that control coughing. Some people with the disease have episodes of uncontrollable, excessive yawning, even when they're not tired. This can sometimes cause jaw pain. Motor neurone disease can lead to changes in a person's ability to control their emotions, particularly when there's weakness in the muscles that control speech and swallowing.
One of the most common signs is when a person has episodes of sudden uncontrollable crying or, more rarely, laughter.
Doctors may call this emotional lability or emotionality. Occasionally, people with motor neurone disease may have significant difficulties with concentration, planning and use of language. This is known as cognitive change and overlaps with a condition called frontotemporal dementia. The changes are usually quite subtle, making it difficult to tell them apart from the normal ageing process, and they don't normally affect a person's capacity to make their own decisions.
The affected person may not be aware that there are problems with their behaviour or personality. As the nerves and muscles that help control the lungs become progressively more damaged, the person's breathing will become less efficient. This may be a feeling of being very short of breath after doing everyday tasks, such as walking up the stairs.
However, over time, the person may even become short of breath when they're resting. Shortness of breath may be particularly troublesome at night. Some people find it difficult to breathe when they're lying down. Others may wake up in the night because of breathlessness. As the disease progresses, a non-invasive breathing mask may be recommended at night to improve sleep quality and help reduce drowsiness during the day.
As motor neurone disease progresses to its final phase, a person with the condition will probably experience:. Eventually, non-invasive breathing assistance won't be enough to compensate for the loss of normal lung function. At this stage, most people with motor neurone disease become increasingly drowsy before falling into a deep sleep, where they usually die peacefully. Some people with motor neurone disease have additional symptoms that aren't directly caused by the condition but are related to the stress of living with it.
These may include depression , insomnia and anxiety. Although many people with motor neurone disease may think about ending their life at some point, this isn't a common outcome, particularly with strong family and community support. Motor neurone disease occurs when specialist nerve cells motor neurones in the brain and spinal cord progressively lose their function.
It's not clear why this happens. In most cases, a person with motor neurone disease won't have a family history of the condition. This is known as sporadic motor neurone disease. Researchers believe that the cause is probably a series of steps involving a mixture of damaging genetic and environmental factors. As we get older, we may gradually lose the ability to keep this damage under control, triggering irreversible neurodegeneration.
This is called familial motor neurone disease which can be hereditary or linked to a problem with genes that can cause problems at a younger age. It's still unclear why the motor neurones begin to lose function. Most experts believe that it's a combination of interrelated factors that ultimately affect either the motor neurones or the nerve cells that support them. Aggregates are abnormal clumps of protein that develop inside motor neurones.
They are found in nearly all cases of motor neurone disease and may disrupt the normal working of the motor neurones, or at least be a marker that the cell is under great strain. The most common aggregate found is TDP, which is a very important protein involved in the correct processing of the genetic instructions for the cell through a molecule known as RNA. All cells contain transport systems that move nutrients and other chemicals into the cell and waste products out of the cell.
Research suggests that 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. The body gets rid of the toxic waste by producing substances known as antioxidants, and packaging the waste into containers called microvesicles.
Research suggests that in motor neurone disease the motor neurones may be deficient in antioxidants. However, there's no evidence that this is due to poor dietary intake. Glia are cells that surround and support motor neurones and provide them with nutrients.
Glial cells also help relay information from one nerve cell to another. Some cases of motor neurone disease may be caused by problems with the glial cells, which means that the motor neurones no longer receive the support and nutrition they need to function normally.
Nerve cells use special "messenger chemicals" called neurotransmitters to pass information from one cell to another. One of the neurotransmitters is called glutamate. There's evidence that the motor neurones in people with motor neurone disease may have become more sensitive to glutamate, resulting in damage to these cells. However, this isn't linked to dietary intake of glutamate. Mitochondria are the "batteries" of cells. They provide the energy that a cell needs to carry out its normal function.
Research has shown that the mitochondria in the motor neurones of people with motor neurone disease seem to become abnormal. The fact that the disease can run in families suggests that single genetic mutations inherited from parents may sometimes have a much larger role in the condition. They play a role in both conscious and automatic movements, such as swallowing and breathing.
The exact causes are unclear, but the National Institute of Neurological Diseases and Stroke reports that genetic, toxic, viral, and other environmental factors may play a role. The different types of MND cause similar symptoms and have three stages: early, middle, and advanced. The diseases progress at different speeds and vary in severity.
In the early stage of MND, symptoms develop slowly and can resemble those of other health conditions. The specific symptoms depend on the type of MND and the area of the body it affects. Typical symptoms begin in one of the following areas:. A study suggests that up to half of people with ALS experience brain involvement, including memory and language problems. Some people also experience insomnia , anxiety , and depression. Eventually, a person with advanced ALS needs help moving, eating, breathing, or a combination of these.
The disease can become life threatening, and breathing problems are the most common cause of death. MND can develop in adults or children, depending on the type. These diseases are more likely to affect males than females. Inherited forms may be present at birth.
However, MND symptoms are most likely to appear after the age of 50 years. The different types appear to have some different risk factors. Also, the National Institute of Neurological Diseases and Stroke observes that veterans appear to have a 1. This may indicate that exposure to certain toxins increases the risk of ALS.
Experts think that this could indicate a link with recurrent head trauma. Doctors often find it difficult to diagnose MND in the early stages, as it can resemble other conditions, such as multiple sclerosis. If a doctor suspects that someone has MND, they will refer them to a neurologist, who will take a medical history and do a thorough examination.
They may also ask for tests, such as:. The medical team monitors the person for some time after the tests before confirming that they have MND.
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