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

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.

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.

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.

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.