Motor neurone disease

Motor neurone disease

What is Motor neurone disease?

Motor neurone disease is a condition that causes progressive weakness and paralysis of the muscles that allow people to move, breathe, swallow and speak.

Symptoms can be treated, but currently there is no known cure. If you have motor neurone disease, there is a range of support and services that can help you maintain a independence and quality of life.

What is motor neurone disease?

Motor neurone disease is an umbrella term for different forms of a condition that affects particular nerves. These nerves relay signals from the brain, through the spinal cord, to the muscles. They are known as motor nerves, or motor neurones, because they are important for movement.

As the motor neurones degenerate and die through the course of the disease, the brain can no longer tell the muscles to move. Slowly, the muscles become weaker.

Motor neurone disease is also known in the US as Lou Gehrig’s disease, named after a baseballer

Symptoms

Most people with motor neurone disease notice the first signs of weakness in the limbs – often the hand or foot, sometimes the shoulder or hip. Many also notice:

  • muscle cramps and twitching
  • that they stumble because it is hard to lift their foot
  • their speech has become slurred
  • they feel short of breath more often than usual
  • recurring chest infections
  • problems sleeping
  • tiredness
  • headaches, especially in the morning.

As time goes on, many people also find:

  • difficulty swallowing (known as dysphagia)
  • dribbling, because of difficulties in swallowing saliva
  • trouble speaking
  • trouble breathing
  • stiff and sore muscles
  • their muscles are wasting.

Some people with motor neurone disease develop mild changes in their ability to think clearly, in their personality or in their behaviour. Some find it hard to control their emotions, and can laugh or cry unexpectedly. Some develop a type of dementia.

In most people the senses – smell, sight, hearing, touch and taste – are not affected. Many people have little or no pain. Many people retain their ability to have sex, although it may be affected by issues around care and self-esteem.

If you have motor neurone disease, you are likely to increasingly lose physical abilities, and will need to rely on family members or carers for help with daily activities.

Most people with motor neurone disease become slowly paralysed and increasingly drowsy. Most die peacefully in a deep sleep within a few years of developing the condition. Some, such as physicist Stephen Hawking, live long lives.

Types & Severity

There are a number of different forms of motor neurone disease, with a fair bit of overlap between them. The most common is amyotrophic lateral sclerosis (ALS), which affects the motor neurones throughout the body.

Other forms are:

  • progressive muscular atrophy, which causes less muscle stiffness than ALS
  • primary lateral sclerosis, which causes a lot of muscle stiffness
  • progressive bulbar palsy, which first affect the muscles controlling speech and swallowing.

Please note that in Australia we describe ALS as just one form of motor neurone disease, but in some other countries ALS is used to mean all forms of motor neurone disease.

Causes

There is no clearly understood cause.

Generally, motor neurone disease is thought to occur because of a combination of factors in the environment, in how people live their lives and in their genes.

About 1 in 10 people with motor neurone disease have a faulty gene (or faulty genes) that has caused the condition. Other people in the family can be tested for a genetic mutation. Prenatal testing is also available.

People are more likely than others to develop motor neurone disease if they:

  • have had some mechanical or electrical trauma
  • have served in the military
  • have exposure to agricultural chemicals or heavy metals
  • smoke or have smoked
  • are or were very physically active.

But it is not well understood why this is the case.

Diagnosis

It can take months to diagnose motor neurone disease because the symptoms are similar to those of other conditions, and there is no single test that gives a clear answer.

Most people see their general practitioner first, and are then referred to a neurologist.

There are a number of tests that can help doctors reach a diagnosis, including:

  • an electromyogram (EMG) to assess the health of muscles and the motor neurons that control them
  • nerve conduction studies that test how well the nerves are working
  • a magnetic resonance imagery (MRI) scan of the brain
  • a lumbar puncture
  • blood tests
  • a muscle biopsy.

Living with Motor neurone disease

Having motor neurone disease will have an enormous impact on you. It will affect all aspects of life, including family, work and relationships. You will need time to come to terms with the diagnosis and what it means for you. You are likely to feel a lot of different emotions at different times, including anger, denial, anxiety, depression and more. 

It is a good idea to find out what you can about motor neurone disease and about the support that is available from organisations such as Motor Neurone Disease Australia. But take your time and do it at your own pace.

 

Psychological and emotional support

There is a lot to think about, and a lot to deal with and you may need to look at psychological and emotional support. You might be able to get the support you need from your partner, your family and your friends, but you can also look for support from a professional such as a psychologist, counsellor or social worker.

Household adaptations

At the right time, you can make adaptations to your home, such as rails, ramps for wheelchairs and hoists to help get you in and out of bed. These adaptations can help you stay in your own home as long as possible, and can also help those who care for you and reduce their risk of injury.

 

Equipment and assistive technology

When you need them, you can get equipment and special aids to help you move about, do routine tasks and communicate. Your occupational therapists, speech pathologists or other health professionals can help. Possibilities include:

  • manual or electric wheelchairs
  • electric riser chairs
  • eye-gaze boards
  • computer programs
  • voice amplifiers or speech generating devices.

 

Diet and lifestyle changes

There are many ways to help you:

  • stay as mobile as possible
  • manage tiredness
  • sleep better
  • breathe easier
  • manage swallowing problems.

For example:

  • relaxation techniques and breathing exercises can help you remain calmer and in control
  • therapeutic massage can help ease stiff muscles
  • extra pillows can make it easier for you to breathe
  • a dietitian can help you adapt your diet, and advise on any special eating utensils, cups and plates you might need.

 

Personal and nursing care

Over time, you are likely to need increasing help from a personal carer, who can help with everyday activities such as dressing, bathing, going to the toilet, feeding, cooking and housework. That might be your partner, or a family member, or a friend.

You might also need home nursing services and, as time goes on, palliative care from your local GP, community nursing service, hospice or hospital.

 

Treatments

The treatments for motor neurone disease aim to ease your symptoms and improve your quality of life.

Ideally, you will be cared for by a multidisciplinary team with skills to address your changing needs. It could include:

  • doctors such as a GP, a neurologist, a respiratory physician and, later, a palliative care specialist
  • a speech pathologist who can help you manage communication and swallowing problems
  • a physiotherapist to help you remain active and make the most of your muscle strength
  • an occupational therapist who can help you with advice around mobility and independence
  • a dietitian to help you with food choices and preparation, particularly if you have difficulties with swallowing and eating
  • a social worker, psychologist or counsellor to help you manage both the practical and the emotional aspects of the condition.

 

Medication

There is one medicine – riluzole – that can be used in Australia as a direct treatment for motor neurone disease. It can help slow the progression of the condition for some people, and it might help some people live a little longer.

There are many other types of medicine that can be used to treat symptoms such as muscle spasm, breathlessness or pain.Your doctor will be able to provide advices re suitable medications.

 

Non-invasive ventilation

As breathing becomes more difficult, you might be advised to use non-invasive ventilation, where you breathe through a mask. If so, you will work with a respiratory specialist on this part of your care.

 

Gastrostomy

Some people who find eating or drinking very difficult or impossible benefit from a gastrostomy, which involves having a small operation to insert a feeding tube into your stomach. This allows you to bypass your mouth and oesophagus.

 

Sources

MND Australia (What is MND, treatment and care, diagnosis and symptom management), The Garvan Institute of Medical research (Motor Neurone Disease), Victoria Better Health Channel (Motor Neurone Disease), Healthdirect (Motor Neurone Disease).

Last updated November 2017

The National Disability Insurance Agency (NDIA) is taking steps towards refining certain aspects of the National Disability Insurance Scheme (NDIS) following a report on NDIS costs.


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