Huntington’s disease

Huntington’s disease

Huntington’s disease is a condition that damages nerve cells in the brain causing them to stop working properly. It’s passed on (inherited) from a person’s parents.

The damage to the brain gets worse over time. It can affect movement, cognition (perception, awareness, thinking, judgement) and mental health.

Symptoms of Huntington’s disease

People can start to show the symptoms of Huntington’s disease at almost any age. Most will develop problems between the ages of 30 and 50.

The condition gradually gets worse for around 10-25 years, until the person dies.

Early symptoms

Behavioural changes are often the first symptoms of Huntington’s disease. These changes often include:

• a lack of emotions and not recognising the needs of others
• periods of aggression, excitement, depression, antisocial behaviour and anger
• apathy – causing a person to appear lazy or have a lack of interest in hygiene and self care
• difficulty concentrating on more than one task and handling complex situations
• irritability and impulsiveness

Speak to your GP if:

• you’re worried you might have early symptoms of Huntington’s disease, especially if there’s a history of the condition in your family

Later symptoms

Further symptoms of Huntington’s might include:

• psychiatric problems – some people develop obsessive behaviours, delusional thoughts or behaviours, stubborness, lack of self awareness, or suicidal thoughts
• uncontrollable movements of the face, jerking, clicking or fidgety movements of the limbs and body
• difficulty eating because the mouth and throat muscles don’t work properly which can lead to choking and chest infections
• communication problems – difficulty putting thoughts into words and slurring of speech
• sexual problems – a loss of interest in sex or making inappropriate sexual demands
• balance problems

In the later stages of Huntington’s disease, the person will need full nursing care.

Death is usually from a secondary cause, like pneumonia or another infection.

You might find the palliative care section useful if you’re caring for someone who’s dying, or if you want to plan your end of life care.

Juvenile Huntington’s disease

Juvenile Huntington’s disease is a rare form of the condition that can occur in people under the age of 20. Common signs include:

• a rapid decline in school performance
• changes in handwriting
• problems with movement, such as slowness, stiffness, tremor or muscle twitching (similar to the features of Parkinson’s disease)
• seizures (fits)

Causes of Huntington’s disease

Huntington’s disease is caused by a faulty gene. Cells in parts of the brain are very sensitive to the effects of the faulty gene. This makes them function poorly and eventually die.

A parent with the Huntington’s disease gene has one good copy of the gene and one faulty copy.

This means there’s a:

• 50:50 chance that each of their children will develop Huntington’s disease – affected children can pass the gene to children they may have
• 50:50 chance that each of their children won’t develop Huntington’s disease – unaffected children can’t pass the gene to children they may have

It’s difficult to predict how old a child will be when they develop the condition if they inherit the abnormal gene.

In around 3% of cases of Huntington’s disease, there’s no obvious family history of the condition. This could be because relatives with the condition died before they were diagnosed with it. In rare cases, it’s due to a new fault in the gene that causes Huntington’s disease.

Diagnosing Huntington’s disease

If you have symptoms of Huntington’s disease, your GP will refer you to a specialist clinician.

The specialist will ask about your symptoms to:

• see if it’s likely you have Huntington’s disease
• rule out similar conditions

They’ll examine you and test your thinking, eye movements, balance and walking. They’ll find out if you have any involuntary movements, such as chorea (fidgety or jerky movements).

Tests to diagnose Huntington’s disease

You might have genetic testing to confirm if you have Huntington’s disease if:

• you’re showing symptoms of the condition and it runs in your family
• your doctor strongly suspects you have the condition

Diagnosis is based on the doctor recognising a number of factors like neurological examination, family history and genetic testing.

Genetic test

The children of someone with Huntington’s disease can take a genetic test after the age of 18 to see whether they’ve inherited the faulty gene.

It’s possible to have the gene change and still be healthy when you’re tested. This is known as “premanifest Huntington’s disease”.

If they’ve inherited the faulty gene, they’ll develop Huntington’s disease, but it’s not possible to work out when.

You can ask your GP or neurologist for an appointment at a genetic clinic. You’ll receive some counselling and blood samples will be taken. Your DNA from the blood samples will be analysed to see whether you have inherited the faulty gene.

Scottish Huntington’s Association has a national youth service to help and support children and young people who are living within a Huntington’s family.

Brain scan

In the early stages of Huntington’s disease, there may not be any specific changes on the brain scan. A doctor might use a brain scan if they’re concerned there may be other problems in addition to Huntington’s disease.

A brain scan may involve having a computerised tomography (CT scan) or a magnetic resonance imaging (MRI) scan.

Getting tested in pregnancy

If you’re pregnant and know you have the Huntington’s disease gene, it’s possible for your unborn baby to be tested during pregnancy at 11 weeks. You can discuss this with a genetic counselling team.

Preimplantation genetic diagnosis

Preimplantation genetic diagnosis can be used when one partner is known to have or is at risk of having the faulty gene.

It involves having in vitro fertilisation (IVF) treatment. The embryo is genetically tested to make sure it doesn’t have the faulty gene before being implanted into the womb.

Should I get tested?

Not everyone wants to know if they’ve inherited the faulty gene. It’s a personal choice.

Some people say they would rather not know because they want to enjoy their life and they may die of other causes before the condition develops.

If you’re considering genetic testing, your GP will refer you to a genetic counsellor first.

Treating Huntington’s disease

There’s no cure for Huntington’s disease. Medication and therapies can help treat some of the symptoms.

Speech and language therapy and occupational therapy, can help with communication and day-to-day living.

Regular exercise is also very important. People who are active tend to feel much better physically and mentally than those who don’t.

Medication for Huntington’s disease

Most of these medications have side effects, like tiredness. It can sometimes be difficult to tell if the side effects are symptoms of the condition or a result of the medication.

Antidepressants to treat depression

Antidepressants can help improve mood swings and treat depression.

Mood stabilisers to treat irritability or mood swings

Mood stabilisers may be considered as a treatment for irritability.

Some mood stabilizers can’t be used during pregnancy.

Medication to suppress involuntary movements

Medication can suppress involuntary movements. In the UK, antipsychotic medicines are usually preferred.

Antipsychotic medication might help control delusions and violent outbursts, but they can have severe side effects, such as:

• stiffness and rigidity
• sedation
• moving slowly

Living with Huntington’s disease

Help is available to assist people with Huntington’s disease in their day-to-day life. This might include physiotherapy, occupational therapy and speech therapy.

Daily routines such as getting dressed and eating meals can be frustrating and exhausting. The types of help outlined below aim to ease the strain of the condition by improving skills that may deteriorate.

Help with communication

Speech and language therapy can improve communication skills, and memory. It can help with swallowing problems.

Communication aids can sometimes be helpful, as they allow communication without the need for talking. For example, you can point to symbols on a chart to show your mood or whether you’re hungry.

The family of someone with Huntington’s disease can try alternative ways of communicating if speech is a problem.

Help with mealtimes

People with Huntington’s disease might need to have a high-calorie diet. A dietitian can help you work out an appropriate diet plan.

Food should be easy to chew, swallow and digest. It can be cut into small pieces or puréed to prevent choking. Feeding equipment like special straws and non-slip mats can help.

At some point, you might be offered a feeding tube that goes into the stomach. If a person doesn’t want to be artificially fed, they should tell their family and doctor. They may want to consider making an advance decision (a living will) or a statement of wishes and preferences.

Occupational therapy

An occupational therapist (OT) can help with day-to-day activities. Your home can be adapted by social services to make life easier for a person with Huntington’s disease.

You might also need to think about wheelchair access.

Read more about occupational therapy and how it can help.

Physiotherapy

A physiotherapist can help with mobility and balance. It uses a range of treatments, including manipulation, massage, exercise, electrotherapy and hydrotherapy. You may be referred to a physiotherapist through your GP or social services.

Current research

Research is underway to find disease-modifying medication and new treatments for Huntington’s disease.

Progress has been made in identifying potential ways of slowing down or halting the condition by “switching off” the faulty gene that causes Huntington’s disease.

Speak to your healthcare professional if you’re interested in taking part in research for Huntington’s disease.

Financial information and support

It’s worth finding out what benefits you may be entitled to if you have Huntington’s disease, or if you’re looking after someone with the condition.

The Scottish Huntington’s Association Financial Wellbeing Service provides information, confidential advice and support to people living with Huntington’s disease.

You can also contact the Citizens Advice Bureau (CAB)

Read more about benefits if you need care, and carers’ benefits

Driving

A person diagnosed with Huntington’s disease who’s started to experience symptoms should inform the Driver and Vehicle Licensing Agency (DVLA). The condition will affect their ability to drive.

The DVLA will write to your doctor, with your permission, to ask for their opinion about your condition. Based on that information, they’ll decide whether you can still drive and for how long before another assessment is needed.

There’s no need to tell the DVLA if you’re carrying the faulty gene but haven’t yet developed symptoms.

You can view the National Care Framework for Huntington’s Disease on the Scottish Huntington’s Association (SHA) website. The SHA employs Huntington’s Disease (HD) Specialists in many areas of Scotland who work as part of multi-disciplinary teams along with HD Clinical Leads, physiotherapy, occupational therapy and speech therapy.