Experts have flagged a mysterious rise in cases of a devastating lethal condition that’s been dubbed a combination of dementia, Parkinson’s and motor neurone disease.
Diagnoses of Huntington’s disease have doubled since the 1990s, studies show, with doctors warning many Britons could unknowingly be at risk.
The genetic disorder, which destroys nerve cells in the brain, is most commonly passed on through families, but can also occur spontaneously – although this is rare.
Around 7,000 people in Britain are living with Huntington’s, most who will endure a brutal and protracted death due to the progressive nature of the illness. Around one in 10 patients die by suicide.
Amid the baffling rise in other long term conditions, like Parkinson’s and multiple sclerosis, experts have now begun to notice a similar pattern in Huntington’s.
Research from 2022 – published in the European Journal of Neurology – found that from 2000 until 2018, the prevalence of Huntington’s rose from 4.3 cases per 100,000 people to 9.2 per 100,000 people.
This follows a 2013 paper by scientists at the London School of Hygiene and Tropical Medicine that noted a doubling in diagnoses since the 1990s.
The jump appears to be dramatic in specific parts of the country. In Northern Scotland, for instance, the disease has jumped by 50 per cent over the last 30 years, according to a 2021 study.
Huntington’s disease researchers believe a ‘stigma’ around the devastating inherited disorder, which destroys nerve cells in the brain, may discourage people from getting diagnosed
Children of a parent who has the mutated gene – named huntingtin, or HTT – have a 50 per cent chance of inheriting it and developing Huntington’s at some point in their lives.
It is typically diagnosed after the age of 30 and is incurable, with patients living for around 15 to 20 years after diagnosis.
Dr Daniel van Wamelen, a clinical lecturer in neuroscience at King’s College London and Huntington’s researcher, told the Daily Mail that diagnoses of the deadly condition are indeed on the up.
But he suggests this is likely due to improved ability to detect the genetic marker of the condition, rather than a real increase in disease.
The identification of the Huntington’s gene in 1993 has fuelled interest in testing among potentially vulnerable patients.
He said: ‘I think we’re better at finding it than we were in the past. Before the discovery, we didn’t know exactly where the gene was located.
‘Since then… it’s become a lot easier to say whether someone has Huntington’s disease or not, because you can simply test the gene.’
In 2019, Chinese researchers found four compounds (orange) that bind to the mutant protein in Huntington’s and destroy it, providing hope for a long-awaited treatment
But Dr van Wamelen said many cases go undiagnosed due to a ‘fear of finding out’.
He said: ‘The problem you get with Huntington’s disease is that often – or most of the time – it runs in families. So people realise that if a parent has it they’re at risk.
‘But not everyone chooses to be tested.
‘Because there’s a 50 per cent chance of having it if you have an affected parent, it’s difficult for people to choose to get tested.
‘Some people say, “I really want to know”, and they do it, but some really don’t want to know, and just kind of see [what happens] over time.’
The choice of whether or not to be tested for Huntington’s has been described as ‘deeply personal’.
A 2019 study – published in the journal Clinical Genetics – found that two-thirds of people who did not wish to know whether they had the Huntington’s gene said the lack of an effective treatment or cure was the main reason.
But Dr van Wamelen said he believes a ‘stigma’ around the disease may also play a part.
He explained: ‘The other thing is it’s a disease that has very clear what we call “motor manifestations”… people can change in behaviour, they may be very disinhibited and do inappropriate things they shouldn’t be doing.’
According to the NHS, symptoms of Huntington’s may include developing obsessive behaviours, delusional thoughts and a lack of self-awareness.
Because it causes the body to lose control over time, people may also experience uncontrollable movements of the face, as well as jerking, clicking, and becoming increasingly restless.
Dr van Wamelen says not all patients suffer issues with inhibition, but suggested that this might play into a lack of public understanding or compassion around the disease.
This may make people less likely to want a diagnosis, or to discuss the disease publicly.
He said: ‘People don’t want to talk about it, they kind of keep it hidden and don’t speak about it. I think that’s an issue.’
Other symptoms of Huntington’s, particularly in the early stages, may include difficulty concentrating, planning tasks, and memory problems.
Many people also experience intense low mood, depression or anxiety, which may worsen over several years.
In the later stages, patients can also have difficulty swallowing and speaking. They may lose weight and experience muscle stiffness with slower, more difficult movement.
According to the NHS, the most common cause of death in people with Huntington’s are complications such as pneumonia.
