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. Medications, supportive devices, and physical therapy can help. Drugs appear to be effective at slowing the progression of some types of MND. Medications, such as botulinum toxin Botox , can help.
Botox injections can block the signals from the brain to the stiff muscles for about 3 months at a time. Baclofen Lioresal , a muscle relaxer, may help ease muscle stiffness, spasms, and yawning. 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.
A genetic mutation occurs when the instructions carried in cells become scrambled in some way. This results in one or more of the body's processes not working properly. The largest group about one third have an expanded area of a gene called C9ORF Some people with this gene abnormality develop motor neurone disease, some develop frontotemporal dementia and some develop both. However, importantly, this doesn't necessarily mean you'll definitely develop motor neurone disease in your lifetime.
If you've been diagnosed with motor neurone disease but there's no wider family history, the overall risk to your own children is currently thought to be similar to that of the general population. Genetic testing is available to determine whether you have one of the mutated genes associated with familial motor neurone disease. Your GP can give you more information about appropriate specialists who can help with the complex issue of when to perform genetic testing.
See your GP if you experience the initial symptoms of motor neurone disease , such as a progressive, usually painless, weakness of grip. After an initial examination, they may refer you to a brain and nervous system specialist a neurologist for a further opinion and possibly tests.
Diagnosing motor neurone disease can be difficult during the condition's initial stages because many of the early symptoms can be caused by other more common health conditions such as:.
Motor neurone disease is usually diagnosed by a neurologist based on the symptoms and a physical examination. Various tests may be used to rule out other possible causes of the person's symptoms if they seem likely. Tests may include:. There are many reasons why there may be delays in diagnosis.
It may be that the initial symptoms aren't thought to be serious, or they're not recognised as being related to the nervous system so a neurologist isn't initially consulted. Sometimes, the diagnosis of motor neurone disease is clear without the need for further tests. However, confirming a diagnosis can sometimes be time-consuming even for an experienced neurologist, who occasionally needs a period of observation to be sure, particularly in cases where the condition progresses slowly.
Motor neurone disease can only be diagnosed if the symptoms are clearly getting worse progressive. Being told you have motor neurone disease can be emotionally devastating and the news can be difficult to take in at first.
Many people diagnosed with the condition go through the classic stages of the grieving process. These are:. If you've been diagnosed with motor neurone disease, talking to a counsellor or a trained clinical psychologist may help combat feelings of depression and anxiety.
It's not unusual to have thoughts of taking your own life, although very few people with motor neurone disease go on to do this. You shouldn't be concerned about discussing any such thoughts with your doctor.
Taking antidepressants or medicines to reduce anxiety may also help as you move through the stages of the grieving process. Your care team will be able to advise you about this. There's no cure for motor neurone disease, but treatment can help relieve symptoms and help to slow down the condition's progression. On this page What is MND? What are the symptoms of MND?
What causes MND? How is MND diagnosed? How is MND treated? Usually, the first things people notice are: weakness in the hands and grip slurred speech weakness in the legs, and a tendency to trip weakness of the shoulder, making lifting difficult cramps and muscles twitching Later on, people with MND: have little or no movement have trouble talking, breathing and swallowing A few people with MND develop a type of dementia.
The exact cause of MND is not known. You may have a range of tests, some which eliminate other conditions. These may include: blood tests muscle biopsies studies to measure how well your nerves and muscles work How is MND treated? Back To Top. General search results. Throughout the year there are opportunities to learn more about MND research. Healthdirect 24hr 7 days a week hotline 24 hour health advice you can count on 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.
0コメント