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Motor neurone disease

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Motor neurone disease (MND) is a rare condition which is caused by the breakdown of the nerve cells in the brain that control movement muscles. 

Motor neurone disease (MND) is a rare condition which is caused by the breakdown of the nerve cells in the brain that control movement muscles. Unfortunately, for now there is no cure, and most people with MND die from it within a few years. However, much research is underway to understand the causes, and eventually to find a cure.

MND usually begins between the ages of 50 and 70, and is rare - only about one person in 25,000 in the UK develops the disease at some time in their lives.

It affects the movement muscles (voluntary muscles), but not the nerves dealing with sensation, so there is no numbness or pins and needles. The parts of the brain dealing with intelligence and awareness also remain unaffected.

There are three main types of MND, depending on which nerves are involved:

  • Amyotrophic lateral sclerosis (ALS) which affects about half of people with MND.
  • Progressive muscular atrophy
  • Bulbar palsy

The cause of MND isn't known. Some symptoms are like polio, so it was originally thought to be due to a virus. However, no virus has ever been discovered, and there is no evidence that it is contagious.

Some types run in families, so a genetic link has been suspected, but even the most common genetic forms are incredibly rare, occurring in only one in every 250,000 people.

MND is known is an autosomal recessive condition, which means that both parents have to be carriers of the faulty gene to pass it on to an affected child.

MND usually begins very gradually, and there may just be a feeling of tiredness to start with. Clumsy fingers and a weak grip are often the first sign of muscle problems. After a while, turning door handles becomes difficult. This is usually followed by difficulties in speech and swallowing.

When the foot muscles are affected, raising the foot with each step can be difficult, causing the feet to drag on the floor (foot-drop). The muscles of the chest wall may be affected, leading to breathing difficulties and lung infections.

In bulbar palsy, the throat muscles are principally involved, and difficulties in swallowing and speech may be the main features. Patients with speech difficulties have a typically quacking voice.

Sometimes, the muscles can be seen to twitch (fasciculation), and pain and stiffness can develop around any joint where the muscles are affected.

Most people who have MND will die from it within three years. As the disease progresses, artificial ventilation is often needed. A tracheostomy - a surgical opening in the windpipe (trachea) - is also sometimes carried out to make breathing easier. Despite these measures, chest infections and pneumonia often cause complications, and can lead to death.

There are some notable exceptions, however. Stephen Hawking, the famous physicist, noticed his first symptoms - clumsiness in his hands - 42 years ago.


There is no test for MND. The diagnosis is usually made on the basis of symptoms and what a specialist finds when examining the nervous system. These will rule out other conditions, such as multiple sclerosis (MS). MS affects the nerves dealing with sensation, and sufferers often complain of other symptoms, such as numbness and pins and needles, as well as muscle-related problems.

Tests to help diagnose MND include:

an electromyelogram, where the muscles are electrically stimulated and their strength measured

a muscle biopsy, which involves removing a small piece of muscle under local anaesthetic, and examining it under a microscope.

There is no cure for MND. Riluzole (Rilutek) is the only drug currently licensed to treat ALS, and it only slows the progress of the disease by a couple of months.

However, several pharmaceutical companies are researching treatments for MND at the moment.

Avenues being pursued include:

antioxidants to mop up waste molecules before they damage nerve cells

creatine, a chemical involved in the distribution of energy within cells

oxandrolone, an anabolic steroid which helps to maintain body weight and muscle mass


Giving people with MND enough information to help them understand their illness and how to deal with their disability is important. Physiotherapists, occupational therapists and speech therapists can all offer advice and support. Relaxation and breathing exercises regularly will help to keep stress levels under control.

The support of family and friends is invaluable. Just being there for the patient and helping them with their inevitable bouts of anxiety and stress may be just as important as any help that qualified professionals can give.

1. How can I manage the problem of too much saliva?

our GP can prescribe medicines to reduce the amount of saliva you produce. Improving your posture and changing your diet can help to reduce saliva. You may find that a suction pump also helps.

Saliva makes swallowing easier 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. Improving your posture 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. Your GP may prescribe medicines such as carbocisteine to reduce the thickness of your saliva. Always ask your doctor for advice and read the patient information leaflet that comes with your medicine.

If you have problems with thick saliva, make sure that you drink enough fluid. Drinking 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. These can be sipped or frozen into icy sticks.

Your GP or district nurse may provide you with a suction pump. This has a small tube attached that you place in your mouth to suck out excess saliva. It can be operated by you or a carer.

2. Does motor neurone disease run in families?

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

If you have MND and also have a parent, aunt, uncle or sibling with the disease, it's called FMND.

In FMND, it's thought that a faulty gene causes the disease. The faulty gene can be passed from parent to child. Children of a parent who has FMND have a one in two chance of inheriting the faulty gene, so the disease isn't passed on to all family members.

In the majority of families with FMND, the faulty gene is unknown. However, around two in 10 people with FMND 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 FMND, a blood test is available to see if you have the faulty SOD1 gene. If you do, other family members may request a blood test (genetic testing) to see if they carry the faulty gene too. Having the faulty SOD1 gene doesn't automatically mean that you will get MND.

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

Yes. There are a number of treatments for MND currently being investigated in clinical trials.

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.


Treatments for MND currently being investigated in clinical trials include the following.

  • Ceftriaxone (an antibiotic) is currently being tested in a phase III trial in America to find out if it improves survival in people with a form of MND known as amyotrophic lateral sclerosis.
  • Tauroursodeoxycholic acid is an anti-oxidant that acts to 'mop up' waste molecules before they damage nerve cells. This medicine is currently being investigated in an Italian clinical trial.
  • Pioglitazone is a medicine used for the treatment of diabetes. A phase II trial in Europe is currently looking to see if it benefits people with MND.

Further information



  • Motor neurone disease; the use of non-invasive ventilation in the management of motor neurone disease, CG105. National Institute for Health and Clinical Excellence (NICE), 2010.
  • Life with MND. Motor Neurone Disease Association., published December 2009
  • Benatar M, Kurent J, Moore DH. Treatment for familial amyotrophic lateral sclerosis/motor neuron disease. Cochrane Database of Systematic Reviews 2009, Issue 1. doi: 10.1002/14651858.CD006153.pub2
  • Motor neurone disease. Brain & Spine Foundation., published August 2010
  • Joint Formulary Committee. British National Formulary. 60th ed. London: British Medical Association and Royal Pharmaceutical Society of Great Britain; 2010
  • Pastula DM, Moore DH, Bedlack RS. Creatine for amyotrophic lateral sclerosis/motor neuron disease. Cochrane Database of Systematic Reviews 2010, Issue 6. doi: 10.1002/14651858.CD005225.pub2
  • Guidance on the use of riluzole (Rilutek) for the treatment of motor neurone disease. Technical Appraisal Guidance TA20. National Institute for Health and Clinical Excellence (NICE), 2001.
  • Miller RG, Jackson CE, Kasarskis EJ, et al. Practice parameter update: The care of the patient with amyotrophic lateral sclerosis: Drug, nutritional, and respiratory therapies (an evidence-based review). Neurology 2009; 73:1218–26
  • Vance C, Rogelj B, Hortobágy T, et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 2009; 323(5918):1208–11
  • Ng L, Khan F, Mathers S. Multidisciplinary care for adults with amyotrophic lateral sclerosis or motor neuron disease. Cochrane Database of Systematic Reviews 2009, Issue 4. doi: 10.1002/14651858.CD007425.pub2
  • NINDS Motor Neuron Diseases Information Page. National Institute of Neurological Disorders and Stroke., published October 2010
  • Saliva control. Motor Neurone Disease Association, November 2010.
  • Treatment trials. Motor Neurone Disease Association., published November 2010
  • Andrews J. Amyotrophic lateral sclerosis: clinical management and research update. Current Neurology and Neuroscience Reports 2009; 9:59–68

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