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Motor neurone disease

Motor neurone disease (MND) is the name given to a group of rare diseases that affect nerve cells in your brain and spinal cord. These nerve cells control the muscles in your body, and the diseases can lead to muscle weakness and wasting.

Your brain sends instructions to muscles that control your voluntary movement (such as walking and swallowing) along nerve cells called motor neurones. Motor neurone disease gradually destroys these nerve cells, which causes weakness and wasting of your muscles.

Around two in every 100,000 people in western countries develop motor neurone disease each year. It tends to occur after the age of 40 – usually between 50 and 70, although some types of motor neurone disease can appear in young adults and even in children. Motor neurone disease affects twice as many men than women.

Motor neurone disease can affect different people in different ways. There are also different types of motor neurone disease. The way motor neurone disease affects your life will depend on the type you have and also the age you get it. Some types of motor neurone disease progress slowly but others, such as amyotrophic lateral sclerosis, can be fatal.

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  • Types Types of motor neurone disease

    There are three main types of motor neurone disease, which affect different groups of nerves.

    • Amyotrophic lateral sclerosis is the most common type of motor neurone disease. It mainly causes muscle cramps, weakness, wasting of muscles and stiffness in your legs.
    • Progressive bulbar palsy affects about one in four people with motor neurone disease. It mainly affects speech and swallowing.
    • Progressive muscular atrophy is a less common type of motor neurone disease. It causes muscle weakness, particularly in your hands, before it spreads to the rest of your body. It also causes muscle wasting and twitching.
  • Symptoms Symptoms of motor neurone disease

    Motor neurone disease develops at different speeds in different people and affects individuals in different ways.

    The disease usually begins very gradually and you may just feel tired to start with. The first symptoms of muscle problems are often having clumsy fingers and a weak grip. Other symptoms include:

    • wasting of muscles
    • muscle cramps, spasms or twitching – called fasciculations
    • difficulty swallowing
    • slurred speech
    • excess saliva or difficulty swallowing saliva
    • coughing after swallowing or a feeling of choking

    These symptoms aren’t always caused by motor neurone disease but if you have them, see your GP.

    Although thinking and reasoning aren’t usually affected, it’s possible you may have some level of intellectual difficulty or a change in personality later on in the disease.

    You may have symptoms in just certain parts of your body to begin with but they will eventually spread to the rest of your body. As the disease progresses you may have the following problems.

    • Muscle weakness in your arms, hands and legs may make everyday tasks more difficult, such as turning taps or door handles, brushing your hair or fastening buttons. Raising your foot with each step may be difficult, which may cause your feet to drag on the floor. You may find it difficult to hold your head upright if your neck muscles weaken.
    • Your throat muscles may be affected and this may lead to difficulties swallowing and with speech.
    • You may laugh or cry more easily. This may be due to physical changes caused by the disease, rather than changes in how you’re feeling.
    • The muscles of your chest wall may be affected, which can make it difficult to breathe.
  • Diagnosis Diagnosis of motor neurone disease

    Your GP will ask about your symptoms and examine you. If your GP suspects you may have motor neurone disease he or she will refer you to a neurologist (a doctor who specialises in conditions that affect the nervous system).

    There is no single diagnostic test for motor neurone disease. Your neurologist will usually make a diagnosis based on your symptoms and what he or she finds when examining you. Your neurologist will also try to rule out other neurological conditions.

    Tests to help diagnose motor neurone disease include the following.

    • Blood tests – these will assess how well organs such as your kidneys and liver are working and will rule out other conditions that might be causing your symptoms.
    • An electromyography – this test uses fine needles to measure the electrical activity of your muscles.
    • Nerve conduction test – this measures the speed at which your nerves carry electrical signals by applying an electrical impulse through a small pad on your skin.
    • Magnetic resonance imaging (MRI) scan – this uses magnets and radiowaves to produce images of the inside of your body. An MRI scan will help to rule out other conditions that may be causing your symptoms.
  • Treatment Treatment of motor neurone disease

    Medicines

    There isn’t a cure for motor neurone disease but there are medicines available to slow down the progress of the disease and manage your symptoms.

    • Riluzole has been shown to slow down the progress of motor neurone disease by a few months. The National Institute for Health and Care Excellence (NICE) has recommended riluzole for the treatment of one of the types of motor neurone disease – amyotrophic lateral sclerosis.
    • Muscle relaxants can help reduce muscle stiffness.
    • Medicines such as phenytoin can treat muscle cramps.
    • Anti-inflammatory medicines and painkillers can help reduce pain and discomfort.

    It’s important to discuss your symptoms with your GP or doctor so that he or she can help you to effectively manage them.

    Your doctor may offer you a mask ventilator system to wear at night while you’re asleep. This should help you to breathe easier and may slow the progress of motor neurone disease. The machines are small and easy to carry.

    Newer treatments

    Researchers are continually improving their understanding of motor neurone disease and investigating new treatments. If you’re interested in taking part in a clinical trial, ask your doctor for advice.

    Scientific discoveries that may lead to future treatments include:

    • faulty genes that may be involved in the development of motor neurone disease – this may one day lead to a gene therapy to stop the effect of the genes in the development of motor neurone disease
    • stem cell research – stem cells are the body’s ‘master cells’ and have the ability to divide and develop into any type of cell; in effect they could be used to create new motor neurones

    Complementary therapies

    Complementary therapies will not stop the progression of motor neurone disease but may help with some of the symptoms. For example, it may help reduce anxiety and stress and make your day-to-day life more comfortable.

    Complementary therapies include:

    • acupuncture
    • meditation
    • massage
    • reflexology

    Talk to your GP or doctor before you start any complementary therapy. Also make sure your practitioner is fully qualified and registered with or affiliated to a recognised body.

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  • Causes Causes of motor neurone disease

    The exact reasons why you may develop motor neurone disease aren't fully understood at present. Research is underway to understand the cause.

    A small number of people with motor neurone disease have a family history of the condition, indicating that it may be possible to inherit the condition. However for most people with motor neurone disease, the disease appears for no apparent reason. This is called sporadic motor neurone disease.

  • Help and support Help and support

    A team of professionals will help support you, and your family. Examples of health professionals who can help you manage your symptoms include the following. 

    • A speech and language therapist can help you with any speech and swallowing problems.
    • A physiotherapist can help you with any physical symptoms, such as pain from stiff joints and muscle spasms.
    • An occupational therapist can give you advice on how to maintain your independence and use equipment around the home.
    • A dietitian can give you advice on a healthy diet and maintaining a healthy weight.

    The support of your family and friends is often invaluable and can help with anxiety and stress.

    Patient associations, such as the Motor Neurone Disease Association, provide information and services that may make life easier and more comfortable. It may also help to contact other people who have motor neurone disease through charities and patient groups, as they can be a good source of support and advice.

  • FAQs FAQs

    Are there any new medicines being developed for motor neurone disease?

    Answer

    Yes. There are a number of treatments for motor neurone disease currently being investigated in clinical trials.

    Explanation

    Clinical trials help find out if new treatments are safe and effective. Clinical trials are usually done in three stages – phase I, phase II and phase III.

    • Phase I are the earliest trials in the life of a new treatment. The medicine is tested in up to 30 (but usually far fewer) patients with the advanced stage of disease to find out the safe dose range, side-effects and how the body copes with the treatment.
    • Phase II clinical trials test the medicine in up to 100 patients with the disease to find out more about the safe dose range, side-effects and how the body copes with the treatment.
    • Phase III clinical trials compare the new treatment with the best currently available treatment and check the new treatment is safe and effective. Sometimes phase III trials involve thousands of patients in many different hospitals and even different countries.

    If you would like information on how to take part in a clinical trial, ask your GP or neurologist for advice.

    Does motor neurone disease run in families?

    Answer

    Yes, motor neurone disease can run in families, although it’s rare. Around six in 100 people with motor neurone disease will have an affected family member. This is called familial motor neurone disease (FMND).

    Explanation

    If you have motor neurone disease and also have a parent, aunt, uncle or sibling with the disease, you may have familial motor neurone disease.

    It’s thought that a faulty gene causes familial motor neurone disease and this faulty gene can be passed from a parent to their child. If you have a parent with familial motor neurone disease, you have a one in two chance of inheriting the faulty gene, so you might not get it.

    In the majority of families with familial motor neurone disease, the faulty gene is unknown. However, around two in 10 people with familial motor neurone disease have a faulty gene called SOD1. It isn’t yet known how this causes the disease but motor neurones have higher levels of SOD1 than other nerve cells, which may be why they are vulnerable if this gene is faulty.

    If you have familial motor neurone disease, a blood test is available to see if you have the faulty SOD1 gene. If you do, your other family members may want to have a blood test (genetic testing) to see if they carry the faulty gene too. However, having the faulty SOD1 gene doesn’t automatically mean that you will get motor neurone disease. Some people can have the faulty gene but never develop motor neurone disease – the reasons why aren’t fully understood at present but other genetic or non-genetic factors may in some way protect them.

    If you’re concerned about motor neurone disease and your family, or would like information about genetic testing, speak to your GP.

    I have motor neurone disease. How can I manage the problem of too much saliva?

    Answer

    Your GP can prescribe medicines to reduce the amount of saliva you produce. If you improve your posture and change your diet, it may help to reduce saliva too. You may also find a suction pump helpful.

    Explanation

    Saliva makes it easier to swallow and keeps your mouth healthy. If you have difficulty swallowing, watery saliva can build up in your mouth and result in dribbling. Your GP can prescribe medicines to reduce the amount of saliva you produce. If you improve your posture, it may also help stop saliva pooling in your throat. A reclining chair or chin support can help support your head.

    You may get thick saliva if you’re dehydrated or have difficulty breathing through your mouth. If you have problems with thick saliva, make sure that you drink enough fluids. Citrus fruit juices, such as grapefruit and orange as well as apple and pineapple juices can help to break down the protein in the mucus. You can sip these or freeze them into icy sticks.

    Your GP or district nurse may provide you with a suction pump. This will have a small tube attached that you place in your mouth to suck out excess saliva. You can operate it, or a carer.

  • Resources Resources

    Further information

    Sources

    • About MND. Motor Neurone Disease Association. www.mndassociation.org, accessed 7 November 2012
    • Motor neuron diseases fact sheet. National Institute of Neurological Disorders and Stroke. www.ninds.nih.gov, published March 2012
    • Pathology of motor neuron disorders. eMedicine. www.emedicine.medscape.com, published 5 April 2012
    • Baldinger R, Katzberg HD, Weber M. Treatment for cramps in amyotrophic lateral sclerosis/motor neuron disease. Cochrane Database of Systematic Reviews 2012, Issue 4. doi:10.1002/14651858.CD004157.pub2
    • Motor neurone disease (MND). Brain & Spine Foundation. www.brainandspine.org.uk, published 16 February 2012
    • Motor neurone disease: the use of non-invasive ventilation in the management of motor neurone disease. National Institute for Health and Care Excellence (NICE). www.nice.org.uk, published July 2010
    • Amyotrophic lateral sclerosis and other motor neuron diseases. Merck Manuals Online Medical Library. www.merckmanuals.com, published September 2012
    • Guidance on the use of riluzole (Rilutek) for the treatment of motor neurone disease. National Institute for Health and Care Excellence (NICE). www.nice.org.uk, published 2001
    • Stem cells and MND. Motor Neurone Disease Association. www.mndassociation.org, accessed 7 November 2012
    • Unproven treatments and motor neurone disease. Motor Neurone Disease Association. www.mndassociation.org, published January 2011
    • Is MND inherited? Motor Neurone Disease Association. www.mndassociation.org, accessed 8 November 2012
    • Inherited motor neurone disease. Motor Neurone Disease Association. www.mndassociation.org, published July 2012
    • Clinical trials: what are they and how are they organised? Motor Neurone Disease Association. www.mndassociation.org, published December 2011
  • Related information Related information

  • Author information Author information

    Produced by Rachael Mayfield-Blake, Bupa Heath Information Team, November 2012.

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