Stephen Hawking has died aged 76, after living with motor neurone disease (MND) for more than 50 years. The scientist was first diagnosed with MND when he was 21 and was not expected to see his 25th birthday, yet he defied doctors’ prognosis by half a century.

“The question of why Professor Hawking lived so long after being diagnosed with MND is a question that has intrigued researchers around the world,” Brian Dickie, Director of Research Development for the MND Association, told HuffPost UK. 

“One view is that something in his genetic makeup was helping to arrest the progression of the disease and this theory has led to detailed genetic studies to look for these protective genes in exceptionally long survivors. Prof Hawking helped to highlight the importance of genetic research and encouraged those diagnosed with MND to participate in MND Association’s National DNA Bank.”

Motor neurone disease (MND) is a rare disease affecting two in every 100,000 people in the UK each year. It is a fatal, rapidly progressive disease that affects the brain and spinal cord. It affects the nerves that control the body’s movement, it can affect arms and legs, speech and swallowing, or ability to breathe.

Belinda Cupid, head of research at MND Association, said: “Normally, the trigger for movement begins in the brain’s motor cortex. This transmits signals down the spine to the relevant area – whether to the nerves in the hands or the feet. The nerves carrying these messages are motor neurones and with MND these systems and nerve pathways become damaged.”

The disease can affect adults of any age, but usually when they are 50 years old and over. It tends to be more common in men than women, but this evens out with age.

Symptoms of motor neurone disease

As mentioned, symptoms can manifest in a number of ways. Some will experience slurred speech while others will find they start to drag their feet. Common symptoms and effects of MND include:

:: Pain and discomfort

:: Muscle cramps and spasms

:: Stiff joints

:: Incontinence

:: Bowel problems

:: Speech and communication issues

:: Eating and drinking difficulties

:: Saliva and mucous

:: Coughing and a feeling of choking

:: Breathing

:: Cognitive changes 

According to the NHS, in most cases the condition isn’t painful.

“Think of motor neurones like domestic wiring,” Cupid added. “Developing MND is like pulling the plug out of the wall – once the connection is lost, you can’t control the muscle anymore.”

Prognosis

Sadly, the life expectancy for most people diagnosed with MND is short. The disease kills one third of people within a year and more than half within two years of diagnosis. “This really demonstrates why we desperately need further research to understand more about the disease in order to develop an effective treatment and ultimately a cure,” Dickie added.

There is currently no cure for MND, although you can have treatment to improve quality of life and help ease the progressive loss of bodily functions. 

The condition kills five people every day in the UK and can affect up to 5,000 adults at any one time.

Cupid added: “Aside from there being no cure, there is also no diagnostic test for MND. This means that people may wait months to find out what is wrong with them. Due to the very rapid nature of MND this means it is vital that patients need care in a range of areas – they will need to see speech therapists, physiotherapists, respiratory experts. At the moment patients are expected to travel from clinic to clinic – and their lives get overrun by MND.

“We need more co-ordinated care in multi-discplinary clinics. Studies have shown that this improves quality of life and life expectancy.”