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What is motor neurone disease? Government ‘fast-tracking’ £50 million to fund research

Around three-quarters of the £50 million funding pledged towards cutting-edge research into motor neurone disease (MND) has been distributed to projects across the UK. The Government confirmed this on June 21.

The funding includes almost £7m in research grants, with MND researchers continuing to submit high-quality bids for open funding.

With more than £35m already paid since 2022, Government ministers say they are eager to enable faster progress towards treatments for the debilitating condition.

“Motor neurone disease is a cruel and devastating condition,” said Secretary of State for Science, Innovation and Technology Chloe Smith on Wednesday, Global MND Awareness Day. “We are unrelenting in our commitment to supporting both the people living with this condition, and the brilliant minds across Britain who are working in the hope it can become treatable — and one day even curable.

“Last year, we cut unnecessary red tape, enabling us to deliver funding for this crucial work even more quickly. Today, we are redoubling efforts by providing further support for the world-leading scientists and researchers who are taking the fight to MND.”

But what exactly is MND? Here’s all you need to know, including its symptoms and possible causes.

What is motor neurone disease?

Motor neurone disease (MND), also known as amyotrophic lateral sclerosis (ALS), is a progressive neurodegenerative disorder that affects nerve cells (neurones) responsible for controlling voluntary muscle movements. It primarily affects the motor neurones in the brain and spinal cord, leading to the degeneration and eventual death of these cells.

As motor neurones deteriorate, the communication between the brain and muscles is disrupted, causing progressive muscle weakness, loss of co-ordination, and difficulties with speech, swallowing, and breathing. The disease can vary in its presentation and progression from person to person.

In rare cases, some sufferers can live for decades. For example, the renowned English theoretical physicist, cosmologist and author, Professor Stephen Hawking, was diagnosed at the age of 21 but lived to be 76.

What are the symptoms of motor neurone disease?

The NHS says these include the following:

  • Weakness in your ankle or leg — you might trip, or find it harder to climb stairs.

  • Slurred speech, which may develop into difficulty swallowing some foods.

  • A weak grip — you might drop things, or find it hard to open jars or do up buttons.

  • Muscle cramps and twitches.

  • Weight loss — your arms or leg muscles may have become thinner over time.

  • Difficulty stopping yourself from crying or laughing in inappropriate situations.

These symptoms can appear gradually and may not be obvious at first. People who experience muscle weakness should see a GP, the NHS says. Although this is unlikely to be caused by MND, being diagnosed early can help people to access the care they need.

English former rugby union player Ed Slater, who was diagnosed with MND in July, said he felt muscle twitches in his arm for 11 months but did not think much about this until it was happening all the time.

He told the BBC: “It was month after month, my arm got weaker and weaker, my grip became weaker, and I went to Oxford and was diagnosed with MND.

“Part of me had prepared for that, partly because of the weakness and partly because of the symptoms.”

What causes motor neurone disease?

The exact cause of motor neurone disease is not fully understood. However, research suggests that a combination of genetic and environmental factors may play a role in the development of MND.

  1. Genetic factors: In some cases, MND can be inherited due to certain genetic mutations. Approximately 5-10 per cent of MND cases are linked to specific genetic mutations. The most well-known genetic form of MND is familial MND (familial ALS), where the disease runs in families. Several genes have been identified that can contribute to the development of familial MND.

  2. Environmental factors: Various environmental factors have been studied for their potential association with MND, although the evidence is not conclusive. Some factors that have been suggested as potential environmental contributors include exposure to certain toxins, chemicals, or heavy metals, as well as viral infections. However, more research is needed to establish a clear causal relationship.

It is important to note that in the majority of cases, MND occurs sporadically without a clear family history or identifiable cause. The interplay between genetic predisposition and environmental factors in the development of MND is an active area of research, but further investigation is required to fully understand the complex causes of the disease.

MND mostly affects people in their 60s and 70s but can happen at any age.

How is motor neurone disease diagnosed?

Diagnosing MND typically involves a comprehensive evaluation by a medical professional, often a neurologist or a specialist in neuromuscular disorders. The diagnosis is based on clinical assessments, ruling out other possible conditions, and in some cases, additional tests.

Here are the key steps involved in the diagnosis:

  1. Medical history and physical examination: The doctor will begin by taking a detailed medical history, including a discussion of symptoms, their progression, and any relevant family history. A thorough physical examination will be conducted to assess muscle strength, reflexes, co-ordination, and other neurological signs.

  2. Electromyography (EMG) and nerve conduction studies: EMG is a common test used in diagnosing MND. It involves the insertion of small electrodes into the muscles to record the electrical activity. Nerve conduction studies may also be performed to evaluate the integrity of the nerves.

  3. Imaging tests: Imaging techniques such as magnetic resonance imaging (MRI) or computed tomography (CT) scans may be used to rule out other conditions that may mimic MND symptoms. These scans can help visualise the brain, spinal cord, and surrounding structures.

  4. Blood and urine tests: Blood and urine samples may be collected to rule out other potential causes of similar symptoms. These tests help identify any underlying metabolic or hormonal abnormalities.

  5. Lumbar puncture (spinal tap): In some cases, a lumbar puncture may be performed to analyse the cerebrospinal fluid (CSF) for any signs of infection or other abnormalities.

It’s important to note that the diagnosis of MND can be challenging, and it often involves a multidisciplinary approach. The process may require multiple visits to a specialist and ruling out other conditions that may present with similar symptoms.

How is motor neurone disease treated?

Treatment focuses on symptom management, improving quality of life, and providing support to patients and their families.

Here are the key aspects of MND treatment:

  1. Medications: Certain medications can help manage symptoms and slow down disease progression. They may include drugs such as riluzole and edaravone to slow the disease’s advancement, as well as medications to alleviate pain, muscle cramps, or excessive saliva.

  2. Assistive devices: As MND progresses, assistive devices including wheelchairs, walking aids, and communication devices may be recommended to enhance mobility and independence.

  3. Therapy: Physical and occupational therapy can help maintain muscle strength, mobility, and range of motion. Speech therapy assists with communication and swallowing difficulties, providing techniques and assistive devices.

  4. Respiratory support: Respiratory difficulties are common in MND. Non-invasive ventilation (NIV) or other respiratory support methods may be used to aid breathing and enhance quality of life.

  5. Palliative care: Palliative care focuses on symptom management, emotional support, and improving overall quality of life. It includes counselling and support services for patients and their caregivers.