Motor neurone disease (MND/ALS) explained

What motor neurone disease is

Motor neurones are the nerve cells that carry instructions from the brain and spinal cord to the muscles, telling them to move. In motor neurone disease these cells gradually stop working and die. Without their signals, the muscles they control weaken, stiffen and shrink from lack of use. The condition can affect the nerves that run from the brain to the spinal cord and those that run from the spinal cord to the muscles, and different combinations cause slightly different patterns. Importantly, the nerves for touch, sight, hearing, taste and smell are usually not affected, so sensation is generally preserved, and the bladder and bowel are often spared until late. Most cases have no clear cause, though a small number run in families through inherited genes.

How it presents

The first signs vary from person to person. Some people notice weakness or clumsiness in a hand, a foot that drags or trips them, or muscle twitching and cramps. Others first notice slurred speech or difficulty swallowing, known as bulbar onset. Over time, weakness spreads to more muscle groups, movements become harder, and muscles waste away. Speech may become harder to understand, and eating and drinking can become difficult and risky. Weakness of the breathing muscles causes breathlessness, early-morning headaches and disturbed sleep. Some people also experience changes in thinking, emotions or behaviour, and a smaller number develop a linked form of dementia. The pace differs greatly between individuals, which makes personalised assessment and planning important.

How it is diagnosed

There is no single test for motor neurone disease, so diagnosis is made by a neurologist who builds up the picture over time. This involves a detailed history and examination looking for the characteristic mix of muscle weakness, wasting, twitching and stiffness. Nerve and muscle tests called electromyography and nerve conduction studies show how the muscles and nerves are working. Scans such as MRI of the brain and spine, and blood tests, are used mainly to rule out other conditions that can look similar and may be treatable. Because the diagnosis is serious and other conditions must be excluded, it can take time and sometimes a second opinion. An early referral to a specialist MND service helps people get the right diagnosis and support as soon as possible.

Care and support

While there is no cure, coordinated care makes a real difference to comfort, dignity and quality of life. A specialist multidisciplinary team may include neurologists, specialist nurses, physiotherapists, occupational therapists, speech and language therapists, dietitians and respiratory and palliative care teams. Physiotherapy and equipment help people keep moving and stay independent for longer. Speech therapists support communication, including devices when speech becomes difficult. Dietitians help with swallowing and nutrition, sometimes using a feeding tube to keep weight and strength up safely. Support for breathing, including non-invasive ventilation at night, can ease symptoms and improve sleep and survival for some people. A medicine that can modestly slow the disease is available for some. Advance care planning lets people set out their wishes while symptoms are milder.

Living with MND and finding support

A diagnosis of motor neurone disease affects the whole family, and emotional, practical and financial support matters as much as medical care. In the UK, the Motor Neurone Disease Association and other charities offer information, local support, equipment loans and helplines. Occupational therapists and social services can arrange home adaptations, mobility aids and care packages to help people stay at home. Benefits and carer support may be available. Palliative care, which focuses on comfort and quality of life, can be involved early and is not only for the very end of life. Talking openly about wishes, keeping doing valued activities where possible, and accepting help all support wellbeing. Carers also need support and respite, and should be encouraged to look after their own health.