Motor Neurone Disease (MND)

Nerve cells control the muscles that enable us to move, speak, breathe and swallow. With motor neurone disease (MND) these neurones fail to work normally. Muscles then gradually weaken and waste, as neurones degenerate and die.

Symptoms

Symptoms and the rate of progression of motor neurone disease (MND) vary significantly from person to person.

Early symptoms may be mild and include:

• Stumbling due to weakness of the leg muscles
• Difficulty holding objects caused by weakness of the hand muscles
• Slurring of speech or swallowing difficulties due to weakness of the tongue and throat muscles
• Cramps and muscle twitching

As the disease progresses symptoms may include:

• Breathing difficulties from decreased lung capacity caused by muscle weakness
• Fatigue caused by muscle exhaustion, decreased lung capacity, metabolic changes, weight loss and reduced food intake
• Insomnia caused by discomfort, pain from stiff joints and muscles, excessive saliva, dry mouth or breathing problems
• Mild changes in cognitive skills and processes and/or behavioural change
• Fronto-temporal cognitive changes (a type of dementia), which is prominent in 5-10% of MND cases
• Excessive laughing or crying due to damage to the upper motor neurones
• Some pain or discomfort

Can it be Hereditary?

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. The pace of gene mutation discovery has accelerated in recent years with advancements in technology. Known genetic mutations now account for over 60% of familial MND.

Managing symptoms

Pain

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 lead to 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 unsupported.

‘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 Pain can be treated using a number of physical measures. These treatments are best accessed with the help of a physiotherapist. Our Support Coordinator can help with finding best suitable physiotherapy options in your area. 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.

Mobility

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. Integral Home Care personal care assistants can follow through the prescribed regimen of exercises which the physiotherapist has advised.

Fatigue

Fatigue is common in MND. Some strategies to counter fatigue can be attended:

• 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 an occupational therapist aids and equipment that can make tasks easier.
• Take shortcuts where possible and sit rather than stand
• make the personal environment safe and easy to move around in
• A sleep study may be useful when people with MND wake up regularly during the night and don’t feel refreshed by sleep

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. Breathing problems can impact on sleep quality and lead to frequent waking during the night and morning headaches. 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.

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 bed, 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. Try to sleep at the same time each night and reduce daytime napping.Make sure the bedroom is quiet, cool, dark and comfortable.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.

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.

Breathing difficulties

Many people with MND have decreased lung capacity because of respiratory muscle weakness, making any activity that requires increased respiratory effort harder. Respiratory muscle 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 can be beneficial 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 MND progresses, as required during the day. NIV has been shown to improve quality and length of life for people living with MND. 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.

Invasive ventilation

Life support via continuous ventilation with a tracheostomy (invasive ventilation) is not commonly used in Australia for a person with MND as their respiratory function will not recover and their disease will continue to progress. Some people may wish to speak to a respiratory specialist to be informed about and consider invasive ventilation.

Oxygen

Oxygen is not usually recommended but is sometimes prescribed if there is an underlying lung problem unrelated to MND. Oxygen for home use should be discussed with a neurologist, palliative care or respiratory physician. High levels of oxygen in the blood can affect the natural drive to breathe.

Swallowing problems

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
• Thickened drinks flow more slowly and are thus easier to control
• 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
• 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. An excellent DVD regarding swallowing difficulties is available from MND Association.

Gastrostomy (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 light anaesthetic. There are two types of gastrostomy available depending on the surgical method used – a percutaneous 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 consume food orally.

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.

Speech and communication

Not everyone living with MND experiences problems with their speech but for some people the muscles in the face, mouth, throat and chest are affected. Muscle weakness caused by MND can create speech difficulties such as slurring, difficulty producing certain sounds, hoarseness or a weak voice. Muscle weakness of the upper limbs can impact on non- verbal communication including hand gestures, writing and typing. Integral Home Care Support Coordinator can arrange a referral to a speech pathologist or occupational therapist who can provide advice on how to modify communication as symptoms progress. They can also provide information on voice banking and recommend strategies, and assistive technology for alternative ways of communicating. Difficulties with communication can lead to decreased social interaction and feelings of isolation, vulnerability, loss of control and frustration.

The following may assist with communication:

• Speaking more slowly
• Creating a calm relaxed atmosphere where possible and avoiding interrupting or trying to finish sentences
• Writing key words or using symbols for communication
• Planning ahead with the multidisciplinary team and support services to enable familiarisation and smooth transition with assistive technology as required.

Cognition and behaviour

In the past, it was thought that MND only affected the nerve cells controlling the muscles that enable us to move, speak, breathe and swallow. However, approximately 50% of people with MND may experience some change in cognition (thinking), language, behaviour and personality. When cognitive and behaviour changes occur in MND, it is because there have been changes in specific areas of the brain called the frontal and temporal lobes. Most people experience relatively mild changes, however, a small proportion (5–15%) of people with MND will receive a diagnosis of ‘motor neurone disease with frontotemporal dementia’. Some people may, at times, experience uncontrollable laughing or crying. This is known as pseudobulbar affect and is associated with upper motor neurone involvement. The general practitioner, neurologist or palliative care specialist will be able to prescribe medications and discuss strategies to assist with some of these symptoms.

Obtaining assistive technology

An occupational therapist, speech pathologist and physiotherapist can advise about assistive technology (aids and equipment) items for comfort, mobility, function, communication, independence and carer safety.

Fact sheets on financial matters and planning ahead are available from the state MND Associations. Government support Government programs to assist people living with MND to live at home vary depending on an individual’s personal circumstances.

The National Disability Insurance Scheme (NDIS) is designed to provide reasonable and necessary supports for people under the age of 65 years who have a permanent disability and this includes people living with MND. Your Integral Home Care Support Coordinator can assist you in applying and also coordinate in planning meetings with NDIS.

Carer support

As most people with MND remain at home, the needs of the primary carer must be taken into account. Many MND carers find that contact with others in the same situation can be a great source of information and support. Support groups affiliated with state MND Associations exist in all states. Respite care can be organised when needed by your support coordinator at Integral Home Care. Respite Care would enable primary carers to have that small break for their own commitments or just to rest and rewind.

MND doesn’t affect the following

Sensory function

For most people with MND the senses of sight, hearing, taste, smell and touch are not affected.

Bladder and bowel

The bladder is not usually directly affected by MND; however, some people experience changes to bladder control. Constipation can occur, especially when people become less mobile or have to change their diet due to swallowing difficulties.

Support Coordination – Referrals

The role of the neurologist is to undertake tests which diagnose MND and exclude other conditions which may be amenable to different treatments. The neurologist will be able to monitor the progress of the disease and help to initiate supportive care at appropriate times. Major questions should be referred to the treating neurologist. Sometimes, the neurologist may encourage a person to seek a second opinion from another neurologist.

An occupational therapist (OT) helps to maintain mobility, function and independence. OTs can visit people in their home to advice on

• Different ways of performing tasks » the selection and adaptation of assistive technology (aids and equipment).
• Home modifications

A physiotherapist helps to maintain the physical activity and mobility of the body, make the most of muscle strength and alleviate or prevent joint stiffness and pain caused by wasting, spasticity and cramps.

Physiotherapists can instruct carers in a range of passive exercises, and the techniques of positioning and transfer to avoid injury to themselves or the person with MND. Our personal care assistants can assist in implementing the instructed passive exercises as recommended by the physiotherapist.

An orthotist can construct and fit braces and splints that provide support and increase mobility.

A speech pathologist (SP) helps in the management of communication and swallowing problems. Communication aids range from simple manual systems such as alphabet boards, to voice banking and voice-synthesising computers that can be operated from a single switch. Speech pathologists can assess and advise on different swallowing techniques, food selection and preparation.

A dietitian provides dietary and nutritional advice. A social worker, psychologist or accredited counsellor provides counselling on the psychological and emotional aspects of MND. Social workers may also offer advice on legal and accommodation services and financial supplements available in the local community, or through federal, state, territory or local government programs. Palliative care specialists can help with symptom management, emotional support and advance care planning. They can also advise about medications to manage breathing difficulties and pain.

MND Association advisors offer information about living with MND and local health and community care services. The MND Associations conduct education programs for people with MND, their family and carers. To find out more about MND and support services call 1800 777 175 or visit the of MND Australia and state MND Associations website – www.mndnsw.asn.au

Reference:

Motor Neurone Disease AssociationMND New South Wales

Gladesville Hospital Victoria Road Gladesville NSW 2111 (Locked Bag 5005 Gladesville NSW 1675) Ph: 02 8877 0999 Fax: 02 9816 2077 www.mndnsw.asn.au admin@mndnsw.asn.au