Get the facts about Huntington’s disease
Symptoms of the progressive brain disorder usually develop between the ages of 30 and 50, but they can appear much earlier. LIZ CONNOR finds out more
BEING diagnosed with Huntington’s disease, a progressive brain disorder caused by a single faulty gene, is a life-changing event.
But even though around 8,000 people in the UK have the condition, according to the Huntington’s Disease Association, and a further 32,000 are estimated to be at high risk of inheriting it, many of us know very little about it.
We asked experts to give us the lowdown on the condition, its symptoms and causes.
What is Huntington’s disease?
“Huntington’s disease affects the central nervous system and is caused by a faulty gene passed down through families,” explains Saffron
Barham, communications manager at the Huntington’s Disease Association.
It’s a genetic disease by nature, and research suggests that each child of a parent with Huntington’s has a 50% chance of inheriting it.
What are the symptoms?
Huntington’s is a degenerative condition, meaning symptoms will develop over time, but the most common sign is uncontrolled movement of the arms, legs, head, face and upper body.
“As it affects the brain, people may notice Huntington’s affecting their thoughts and feelings. For example, it may become harder for them to concentrate or problem-solve, or it could cause mood swings or depression,” says Sushma BaralSharma, clinical service manager at Bupa’s Beacher Hall Care Home in Reading.
Sushma, who cares for many patients with the disease, explains: “Physical symptoms can start off as a slight impairment in someone’s mobility or speech, swallowing or movements.
“These can then progress to involuntary movement of the arms, legs and body – a symptom known as ‘chorea’ – or difficulty in moving.”
It can also exhibit itself through problems with speaking, swallowing or breathing, and often leads to changes in mood, like depression, anxiety, and anger and irritability.
Does if affect family planning?
Genetic testing can help you to understand your own personal risk, and a genetic counsellor can talk you through your options if you’ve tested positive for the disease. In this case, some people consider pre-natal testing and IVF, where the embryos are tested for presence of the Huntington’s gene before they are implanted in the womb.
Treatment and support
While there is currently no ‘cure’ for Huntington’s, Daniela Nica, a registered general nurse from Bupa’s Beacher Hall Care Home, says there are things that people can do to alleviate the symptoms.
“For example, occupational therapy and physiotherapy can help maintain people’s movement and balance, while speech and language therapy can help with difficulties communicating or eating,” she says.
“A GP will also help signpost a person who has been diagnosed with Huntington’s to the support available, and will refer them to various specialists as required.
“Involvement from neurology teams is important too.”
The Huntington’s Disease Association provides services to people affected by the disease, including a specialist advisory service, online support and local support groups.
Find out which services are available in your area at hda.org.uk.
Speak to your GP for advice if you’re worried you might have symptoms of Huntington’s disease – especially if someone in your family has or had it.