About Motor Neurone Disease

What is MND?

Motor Neurone Disease (MND) is the name given to a group of similar illnesses. These illnesses all cause damage to the nerves called motor neurones. These are the nerves that carry the messages which control our muscles. A common early sign of MND is increasing muscle weakness. This can show up in many different ways such as not being able to do something you could easily do before. Depending on which muscles are affected this early weakness could perhaps cause you trouble walking or lifting your arms. In about one case in four, it can start in the muscles we use to speak, chew and swallow; this can cause slurred speech and eating difficulties for some people.

There are many different kinds of problems that motor neurone disease can cause. However, it is important to remember that not everyone is affected in the same way. Just because something is mentioned here it doesn’t mean it will definitely happen to everyone who is affected by MND. Some people with MND never lose the use of their hands, others never lose the use of their voice and others are always able to walk.

The damage caused by MND is progressive. This means that the damage gets worse with time. As the disease progresses any affected muscles will weaken until, perhaps, the muscle can no longer do its job. As well as this, the effects of the disease will normally spread to other muscles in the same area. This can often cause the loss of use of that limb or part of the body. Motor Neurone Disease is a fatal muscle-wasting illness, MND strikes people in the prime of their lives and there is currently no cure.

How is MND diagnosed?

MND is diagnosed usually by a neurologist there is no specific laboratory test. Electrical tests are carried on the muscles and nerves. If you need a more information about diagnosis you should contact a neurology department.

Are there different types of MND?

There are four main types of MND, each affecting people in different ways. There can be a great deal of overlap between all of these forms, so, while it is useful to separate the various types of the disease, in practice, it is not always possible to be so specific.

Amyotrophic lateral sclerosis (ALS)
This is the most common form, with both upper and lower motor neurone involvement. This form of the disease is characterised by weakness and wasting in the limbs. Someone may notice they are tripping when walking or dropping things. Average life expectancy is from two to five years from onset of symptoms.

Progressive bulbar palsy (PBP)
This form affects about a quarter of people diagnosed, and involves both the upper and lower motor neurones. Symptoms may include slurring of speech or difficulty swallowing. Life expectancy is between six months and three years from onset of symptoms.

Progressive muscular atrophy (PMA)
PMA affects only a small proportion of people, mainly causing damage to the lower motor neurones. Early symptoms may be noticed as weakness or clumsiness of the hand. Most people live for more than five years.

Primary lateral sclerosis (PLS)
A rare form of MND involving the upper motor neurones only, PLS mainly causes weakness in the lower limbs, although some people may experience clumsiness in the hands or speech problems. Life span could essentially be normal, although it may be life-limiting, depending on whether it remains as pure PLS or develops into ALS.

What is the prognosis/quality of life for someone who’s just been diagnosed?

Prognosis varies depending on the type of MND and the age of onset. Generally, life expectancy is 3 to 5 years, but it can be shorter or a lot longer. Stephen Hawking has had MND for 50 years

Some MNDs, such as PLS, are not fatal and progress slowly. People with SMA may appear to be stable for long periods, but improvement should not be expected. Some MNDs, such as ALS and some forms of SMA, are fatal.

What are the symptoms?

Wasting occurs generally in the hands, arms and legs, and then weakness may develop in the face and throat, causing problems of thick speech and difficulty in chewing, coughing and swallowing.

Why can it take so long to diagnose MND?

MND is an extremely difficult condition to diagnose in its early stages because few cases of MND follow exactly the same pattern. Which muscles are affected, the order in which they are affected and the way they are affected can vary so much that there are almost no rules to help predict how any one case will develop. The first symptoms can be so subtle that it is difficult for a doctor to decide exactly what is wrong. As the area of body affected by weakness spreads, it becomes easier to decide what is, and what isn’t, MND. An experienced neurologist might be reasonably sure that something is or isn’t MND but might want to see the development of more symptoms in an early or slowly developing case before being sufficiently confident that something is definitely MND.

There is currently no test for MND. Where tests are carried out, these are used to rule out other conditions. Diagnoses can take 6-12 months. If you have any concerns at all you should first see your doctor and then be referred to a neurologist. MND is usually diagnosed by a neurologist as there is no specific laboratory test. Electrical tests are carried on the muscles and nerves. If you need a more information about diagnosis you should contact a neurology departmemt.

What causes MND?

Many theories have been proposed – viral infection, environmental poisons, metabolic disturbance and genetic defects. In the vast majority of cases of MND, there is no history of the disease in any of the immediate family members (grandparents, parents, brothers or sisters). This is called “sporadic MND”, because the disease appears for no apparent reason. However, in about 10% of cases, family history of the disease indicates that inherited genetic damage causes the condition; this is termed “familial MND”.

How many people get MND?

Approximately one in 50,000 will develop MND in any one year, with 300 patients in Ireland at any one time. Most patients are adults ranging from 20 years of age to 80s and 90s. One person dies every five days from MND.

What treatments are there for MND?

MND itself is not curable, but the symptoms that come with it can be managed in different ways. The only drug available to directly affect MND is called Riluzole or Rilutek. It is thought this drug slows down the progression of MND. The symptoms of MND can often be managed by drugs or in other ways. In general MND tends to affect the following areas, although not every person with MND will have problems in all of these areas, nor in this order.
Mobility (walking can gradually get more difficult), Hand and Arms (may become difficult to move and control), Speech (can become slurred), Swallowing (may become difficult), Muscles of the Trunk (tummy and chest may become weak), Weight Loss, Changes in Mood or Thinking, Breathing (may get breathless easily), Things can be done to help with each of the areas above through community health professionals, Occupational Therapist, Speech & Language Therapist, Dieticans, Physicos etc.

Are there any recent developments in medical research towards treatment/cure?

The Dexpramipexole trial – there are currently 30 MND patients on this trial drug since October 2011. It is thought to work by increasing the efficiency of mitochondria, the part of the body’s cells that produce energy. Lead researcher, Prof Orla Hardiman, consultant neurologist at Beaumont Hospital, said, “Early clinical trials suggest that dexpramipexole has the potential to be a significant advance in MND treatment. In small groups of patients in the US, the drug seemed to slow disease progression and improve survival. Results will be available in around 12 months (Dec 2012) but we are very hopeful”. There are lots of other drugs in the pipeline that we are hoping will be tested in the next year or so.

Also a lot of research is being carried out into the lifestyles of people with MND to determine patterns in where they live, what their job occupation was, and so on.

A number of new genes have been discovered that will help us understand what causes the disease. Beaumont is the centre of excellence for MND research and is part of 2 big consortia that have got big European grants (€9 million for one and around €4 million for the other) to study the causes of MND, so there is lots of very exciting research going on.

What help is available to people with MND?

Each person who is diagnosed as having MND will be given the opportunity to meet an MND clinical specialist. This person has many years’ experience of dealing with MND and is an expert in the management of the disease. The clinical specialist might be introduced to you at a neurology clinic after diagnosis, or should make contact with you within a couple of days.

The clinical specialist will assess what help needs to be pulled in from community and health services in order to give you the support you need to live at home. Once the initial issues are dealt with the clinical specialist will keep in contact. If your circumstances or symptoms change it is important that you let the clinical specialist know about this change as soon as possible.

You will be looked after by a team of professionals which can include a neurologist, MND clinical specialist, occupational therapist, speech and language therapist, dieticians and district nurses amongst others. Members of this team will change depending on your symptoms and needs as the disease progresses.

What does the IMNDA do?

It functions as a support group to people with MND. Its work involves the supply of specialised equipment to patients, financial assistance towards home help, counselling services, provision of information and someone to talk to. The IMNDA always makes sure that there is someone at the end of the phone to help in anyway. Two specialist nurses visit people with MND in their homes and help and give advice in anyway they can. A nurse costs approx €70,000 per annum.

The Association relies heavily on fundraising activities from our members and supporters. It has many active regional groups throughout Ireland raising both awareness and funds, and receives 20% of its funds from the HSE and the Government so the organisation needs to raise 80%. It costs approx 1 million to run the Association each year.

Just to give you an idea of costs. When a person is diagnosed with MND they will require specialised equipment for their day-to-day needs.

This is an example of some of the equipment that may be required by a typical MND sufferer and the costs involved to the association.

Electric Wheelchair – up to €10,000
Air mattress – €6,800
Hoist – (Standing Aid) up to €8,000
Light Writer (speaking aid) – approximately €3,500
Bed with pressure relieving mattress – €2,000
Total cost to the Association – €30,500 for equipment alone for one patient
Home help will cost the association approx €420,000
A night nurse could cost the association €360.00 per night for approx 8 hours for one patient.

Is home help available?

Yes it is available, we usually ask the local Public Health Nurse to assess the needs of the patient. The family will source the carer in their area. If they need information about carers or agencies they can contact the IMNDA. Anyone with MND who is in need of home help, free home help is available from the HSE- home care teams and our contribution acts an addition to this home help.

Where is the IMNDA based?

The IMNDA is based in the Dublin area but provides services to the whole country www.imnda.ie 1800 403 403