Motor neuron disease (MND) – also known amyotrophic lateral sclerosis or ALS – affects over 400 000 people in the world every year, and kills more than 100 000. A third of its victims die within one year of diagnosis and more than half within two years. The process of degeneration is both swift and comprehensive; it becomes first difficult and then impossible to move, eat and breathe without assistance. Respiratory complications are the most common cause of death.

Its causes are unknown. There is no cure.

Anyone can get MND. The causes may be genetic, viral or environmental. While MND is fatal, proper treatment can improve the lives of sufferers. When Joost van der Westhuizen was diagnosed with the disease in 2011, there was little social support and no research being done in South Africa. When he set out to find help overseas, generous offers of expertise and equipment from international centres of excellence made him realise that he could also help others.

Nerve cells (neurones) control the muscles that enable us to move around, speak,  breathe and swallow. Motor neurone disease is the name given to a group of diseases inwhich these neurones fail to work normally.

Muscles then gradually weaken and waste. The effects of motor neurone disease – initial symptoms, rate and pattern of progression, and survival time after diagnosis – vary significantly.

Early symptoms are often mild. They may include stumbling due to weakness of the leg muscles, difficulty holding objects due to weakness of the hand muscles, and slurring of speech or swallowing difficulties due to weakness of the tongue and throat muscle.

Many other conditions can mimic motor neurone disease early in the disease. Diagnosis requires an expert neurological opinion and often a series of detailed investigations. Diagnosis may take some time to be established, although diagnosis may be confirmed rapidly by a neurologist.

The diagnosis can be assisted through a range of tests, including some which eliminate other conditions. Often an electromyograph (EMG) is used, in which a needle is inserted into various muscles to measure their electrical activity. This can assist with bothdiagnosis and prognosis.

Until recently it was thought that the memory and intellect remained unaffected by motor neurone disease. However, in the past few years, fronto-temporal cognitive change (a type of dementia) has been associated with motor neurone disease and it is now thought that one in five people with motor neurone disease may experience these changes.  Researchers have also found that about one in three people with motor neurone disease may have very mild changes in cognitive skills and processes.

The bowels and bladder are not affected by the disease, although nutrition should be carefully monitored. Sight, hearing, taste, smell and touch are usually not affected by motor neurone disease.

Although there is no cure for motor neurone disease yet, research has shown some interventions can help people living with motor neurone disease to live better for longer. Sometimes, costly therapies for motor neurone disease are recommended by well-meaning people or promoted on the television or internet.

People with motor neurone disease are encouraged to discuss any therapies they hear about with their neurologist, general practitioner or care team. This is because these therapies can be harmful or may already

There is one medication approved for treatment of motor neurone disease in Australia – riluzole (Rilutek). Riluzole prolongs median survival by two to three months. Riluzole also keeps people with motor neurone disease in the milder stages of the disease for longer, if they start taking it early in the disease progression.

Other interventions such as getting multidisciplinary care, good nutrition and using non-invasive ventilation have all been shown to help people living with motor neurone disease to live better for longer. Also, the way that people manage their earlier symptoms of motor neurone disease can affect how later symptoms can be managed. Early discussion about symptom management helps people with motor neurone disease to plan ahead.

A multidisciplinary care team for people with motor neurone disease usually includes a doctor, allied health professionals (such as a dietitian, occupational therapist, physiotherapist, social worker and speech pathologist) and local palliative and community care workers. Other team members who have particular expertise are involved as needed, such as a respiratory specialists.

The J9 Foundations assists people living with motor neurone disease to get information, support and referral to other services when needs change.

Most cases of MND are sporadic –meaning occurring in scattered or isolated instances without clearly identifiable causes. There are many theories about the causes of MND. These include exposure to  environmental toxins and chemicals, infection by viral agents, immune mediated damage, premature ageing of motor neurones, loss of growth factors required to maintain motor neurone survival and genetic susceptibility.

Familial (hereditary) MND accounts for about 10% of cases. In 1993 mutations were identified on the SOD1 gene on chromosome 21. These mutations are believed to be present in about 20% of people with familial MND. Since then, several other gene mutations have been discovered, including TARDBP (also known as TDP 43) and FUS. In 2011 the discovery of mutations in the C9ORF72 gene was announced and has since been found in about 40% of all families with familial MND.

Current research aims to identify further genes linked to MND and to understand how these mutations cause damage to motor neurones.

There is no evidence that MND is transmissible from person to person.

MND occurs at similar rates in most countries of the world. It is estimated that there are presently around 400,000 people worldwide diagnosed with MND. Slightly more men than women are diagnosed with MND, most commonly in the 50 to 60 year age group. However, MND may be diagnosed in adults at any age.

In addition to support from family and friends, other people who may help include general practitioners,  neurologists, occupational therapists, orthotists, physiotherapists, speech pathologists, psychologists, dietitians, palliative care services, home care nurses, social workers and the J9 Foundation advisors. This list is not exhaustive.

The needs of people living with MND are complex and vary from person to person. It is important that a variety of health professionals be involved in their care, enabling regular assessment and review of changing needs. The general practitioner (GP) is usually the first and primary person of contact for a person with MND. GPs can carry out the basic neurological examination, and recognise symptoms which indicate the need for referral to a neurologist. The GP will then liaise with the neurologist, other specialists and allied health care providers in order to provide the best possible standard of care and to maintain quality of life.

The neurones carrying sensory messages of pain, touch, heat, cold and pressure from the skin and deeper tissues back to the spinal cord and brain are usually unaffected.  Immobility and weakness can leadto pain and discomfort such as:

» cramps in the muscles, especially in the legs. These are most common in the early stages of the disease
and may occur with exercise or at rest
» pain and stiffness in joints can occur because weakness of the muscles around a joint allows excessive
strain to be transmitted directly through the ligaments and soft tissues. The shoulder joint is most
commonly affected.   Care should be taken not to pull on the arms when assisting a person with MND to
change the position of their body. It is also important not to leave a person’s weak arm hanging
» ‘frozen shoulder’ – where movement at the shoulder causes pain–can occur through inactivity of
muscles of the shoulder
» pain in the muscles of the neck, shoulder, hip and knees can occur with the loss of normal  postural
control, which occurs when muscles are weak. The discomfort is characteristically improved by
postural or positional change. This problem is worse in people who are too weak to readily move or
reposition themselves
» carers need to know how and when to assist the person with MND to readjust their position in order to
minimise this problem. Electrically operated beds and chairs and special cushioning can improve
mobility and comfort

Pain can be treated using a number of physical measures. These treatments are best accessed with the help of a physiotherapist. Special cushions and mattresses can provide extra ‘padding’ and pressure relief, especially if the person has lost weight. Gentle passive exercise of those limbs which are too weak to be moved by the person’s own efforts can prevent pain arising from stiff shoulders and other joints. Warm packs and baths are often useful, but care needs to be taken with temperature control. The general practitioner, neurologist or palliative care specialist can prescribe a range of medications for pain.

Relaxation therapy can be of great value especially if breathing or swallowing problems are also being experienced. It is possible that someone from the health or palliative care team may be able to teach a few simple relaxation techniques. Some people find commercially available relaxation tapes helpful. Others may find acupuncture useful in the treatment of pain. People are encouraged to check with their doctor before embarking on additional treatments to those already being given.

Most people with MND develop mobility problems. It is unlikely that people living with MND will stay in bed for long periods, but they may need help moving around. Some people have a tendency to fall, sometimes without warning.

Occupational therapists and physiotherapists can advise about access around the home and assist in the provision of appropriate aids to improve mobility and safety.

Fatigue is common in MND. By recognising the factors that worsen symptoms and by learning how to conserve energy, people with MND can improve their quality of life.

Some strategies are:

» plan activities in advance
» take regular rest periods
» rest between activities and before going out
» do not exercise to the point of excessive fatigue, cramps, or muscular weakness
» discuss with a physiotherapist exercises to alleviate stiffness, muscular tension, or pain
» move slowly, with frequent rests,taking a few breaths before recommencing a task
» keep heavier tasks for times of greater energy
» stop if breathlessness occurs
» discuss, with an occupational therapist, aids and equipment that can make tasks easier
» take shortcuts where possible and sit rather than stand
» try to establish a regular sleeping pattern
» make the personal environment safe and easy to move around
» a sleep study may be useful when people with MND wake up regularly during the night and don’t feel refreshed by sleep

Sleeping difficulties may be caused by a variety of reasons, for example, discomfort because of immobility, pain due to stiffness of joints or muscles, excessive saliva or dry mouth, or breathing problems.

People with MND may find it useful to have regular respiratory assessments, including sleep studies. These are most useful at a relatively early stage and their timing depends upon the level of abnormality detected. It may also be helpful to consider non-invasive respiratory support to improve sleep and day time exhaustion or sleepiness.

Different sleep strategies work for different people:

» try not to remain in the same position in bed for too long
» satin or silk sheets may help moving about in bed
» an electric bed can be adjusted to a variety of positions at the push of a button
» side rails, bedside furniture and extra pillows can give added support
» a segmented overlay mattress and specialised pillows distribute body pressure more evenly
» muscle spasticity or pain from muscle tightness and joint stiffness may be relieved with medication
prescribed by the GP
» non-prescription analgesics such as aspirin or paracetamol can relieve mild discomfort before retiring
» joint pain may be relieved by stretching or range-of-motion exercises – a physiotherapist may be able to
find the origin of the problem and recommend a remedy
» breathing may be helped by elevating the head and chest with an extra pillow or two, or raising the head
of the bed on blocks; this relieves pressure on the diaphragm and improves lung expansion
» before going to bed, avoid over-exertion, caffeinated drinks,smoking and heavy meals – too much food
puts pressure on the diaphragm and can aggravate breathing problems
» retire at the same time each night and reduce daytime napping
» make sure the bedroom is quiet, cool, dark and comfortable – light bedclothes allow easier movement in
» impaired swallowing reflexes may cause a build up of saliva or mucus – sleep with the head elevated to
prevent secretions from pooling in the upper airway
» a slow rhythmic back rub or a light massage of aching muscles promotes relaxation
» deep abdominal breathing may reduce stress
» soft music or reassuring conversation can promote sleep

Many people will experience difficulty sleeping because of the emotional distress of receiving a diagnosis of MND or the stress of living with MND. In these circumstances the person with MND should be encouraged to speak with their neurologist or GP about counselling, ongoing support and medications to relieve anxiety or depression, if present.

Many people with MND have decreased lung capacity because of muscle weakness, making any activity that requires increased respiratory effort harder.  Respiratory weakness can develop at any stage of disease progression and may cause shortness of breath, frequent waking during the night, fatigue, impaired quality of life and sleepiness.

Referral to a specialist respiratory physician should take place soon after diagnosis. A baseline measurement of breathing function can be helpful for future treatment.  Some people may also find their cough is less forceful than before,making it more difficult to clear their throat. People with MND may experience the feeling of not being able to get enough air, rather like the sensation of being in an overcrowded room.

Position is important. Sitting in a slumped position restricts lung capacity. Sitting up may be better than lying down.

» When sitting, the bottom should be well back in the chair, the back straight and well supported.
» If excessive saliva or mucus is a problem, seek the advice of the GP and speech pathologist about controlling
it.   A physiotherapist can also teach assisted cough techniques.
» Avoid contact with people who have colds or flu and consult the GP about the need for a flu vaccination.
» Try to keep the bedroom and living areas at a comfortable, steady temperature (around 18 and 21 degrees respectively). Keep the rooms well ventilated and avoid smoking or being in the presence of smokers.
» Shortness of breath may be helped by breathing in a calm and purposeful way until the sensation has passed.
» Routine chest physiotherapy can be beneficial, but should not be too vigorous. The physiotherapist may also
suggest a program of breathing exercises to help maintain lung expansion.

If shortness of breath cannot be managed, the GP or neurologist should be consulted immediately.
» Medications can be prescribed to relieve feelings of breathlessness.
» Referral to respiratory specialist for reassessment and discussion about non-invasive ventilation.

Non-invasive ventilation (NIV) If the symptoms related to increasing respiratory muscle weakness impact on quality of life some people will choose to use NIV. This involves being referred to a respiratory specialist for assessment and regular review.  The respiratory specialist will prescribe the appropriate machine to use and the settings required. NIV is delivered via a mask usually at night initially and then as required during the day as MND progresses.

NIV has been shown to improve quality of life for people living with MND. NIV is suitable for many people with MND but it will not be suitable for everyone. There are a number of implications to consider that should be discussed with the specialists involved. Over time NIV will be less effective in controlling respiratory symptoms.

Some people with MND experience swallowing difficulties which require adaptation of the process of eating and drinking. Referral to a speech pathologist and a dietitian should occur as soon as any swallowing or saliva difficulties are experienced.

The following suggestions might be useful:
» modify the texture and consistency of food and drink
» puréed (vitamised or blended foods that are smooth, moist and free from lumps, but not runny, are
usually easier to swallow
» purée different foods separately and serve attractively, providing a contrast of colours and flavours at
each meal
» thickened drinks flow more slowly and are thus easier to control
» try a lightweight cup with a wide, flared top
» it is usually easier to eat from shallow spoons
» small amounts of food and drink per swallow reduce the risk of inhalation – in most cases drinks should
be sipped
» reduce the size of each mouthful until the person with MND finds what is best for them – some people
find that teaspoon sized mouthfuls are easier to manage
» allow more time to eat and drink; do not try to keep pace with others during meals
» eat and drink in private if desired
» people with MND should eat foods that they like–taste is a strong stimulus for the swallow reflex
» swallowing is generally easier when the person is sitting as straight as possible with the head upright;
avoid tilting the head back or bending it forward towards the chest; some people find swallowing easier if
the head is slightly forward, as if sniffing the air
» more specialised eating utensils, such as spouted cups and syringes are also available – a speech
pathologist or occupational therapist can provide advice
» the presence of ropey, tenacious secretions in the mouth and pharynx can make swallowing more
difficult – drinking fruit juices, particularly grape juice,and sucking papaya enzyme tablets can help to
break down the secretions
» seek GP or palliative care advice on medications to help manage excess saliva

People experiencing swallowing difficulties can be more prone to chest infections.

(PEG and RIG)
If swallowing becomes too tiring, or too difficult, the person may choose to have a gastrostomy. This entails having a tube surgically inserted through the upper abdominal wall into the stomach under a lightanaesthetic.
There are two types of gastrostomy available depending on the surgical method used – a percutaineous endoscopic gastrostomy (PEG) and a radiologically inserted gastrostomy (RIG). Food, usually a proprietary liquid feed, is put into the tube (known as PEG or RIG feeding).

Having a gastrostomy does not necessarily mean that the person with MND cannot eat. Often, a small amount of food for pleasure can be consumed while most of the nutritional intake occurs via the gastrostomy. This approach may reduce fatigue and should be considered by those who experience marked problems in eating or drinking.