Huntington’s disease is an inherited neurological condition that affects movement, thinking, mood and behaviour. Because the condition develops gradually, its earliest symptoms can be easy to overlook or attribute to stress, ageing or another health problem.
For someone with a parent or close relative who has Huntington’s disease, the uncertainty can be particularly difficult. You may notice changes in yourself and wonder whether they could be early signs of Huntington’s disease, or you may be considering genetic testing to find out whether you have inherited the altered gene.
Understanding what to look for, how Huntington’s disease is diagnosed and what genetic testing can and cannot tell you can make the process a little clearer.
What is Huntington’s disease?
Huntington’s disease is a progressive neurological condition caused by an alteration in the HTT gene. It affects parts of the brain involved in movement, thinking, mood and behaviour.
The condition is inherited in an autosomal dominant pattern. If one biological parent carries the disease-causing gene expansion, each child has a 50% chance of inheriting it.
Huntington’s disease usually begins during adulthood. Symptoms most commonly start between the ages of 30 and 50, although they can develop earlier or later.
The way Huntington’s disease develops varies between individuals. Even people within the same family can experience different symptoms and differences in when those symptoms become noticeable.
What are the early signs of Huntington’s disease?
The early signs of Huntington’s disease can be subtle.
Huntington’s disease does not only affect movement. Early changes can involve three broad areas:
- Movement and coordination
- Thinking and cognitive function
- Mood, behaviour and personality
Some people may notice physical changes first, while for others, changes in mood, behaviour or thinking can become noticeable before more obvious movement symptoms.
Early movement symptoms of Huntington’s disease
One of the symptoms most associated with Huntington’s disease is chorea. This describes involuntary, irregular movements that can affect the arms, legs, face or other parts of the body.
Early movement symptoms can include:
- Small involuntary movements or jerks
- Twitching in the fingers or toes
- Increased clumsiness
- Knocking things over or dropping objects
- Changes in handwriting
- Difficulty with coordination
- Changes in walking or balance
- Difficulty controlling movements
The NHS lists small involuntary movements, clumsiness and difficulty controlling muscles among the early symptoms of Huntington’s disease.
However, having a twitch, occasionally dropping things or feeling clumsy does not mean that someone has Huntington’s disease. These symptoms are common and can have many different causes.
What matters is whether there is a persistent or progressive pattern, particularly when movement changes occur alongside cognitive, mood or behavioural symptoms.
Cognitive symptoms
Huntington’s disease can affect the way a person thinks and manages everyday tasks.
Early cognitive symptoms can include:
- Difficulty concentrating
- Problems planning or organising tasks
- Taking longer to make decisions
- Difficulty managing several tasks at once
- Short-term memory problems
- Difficulty adapting when plans change
- Becoming less able to organise work or household responsibilities
These changes can sometimes be noticed at work before they become obvious in other areas of life.
The UK Genomics Education Programme describes cognitive features of Huntington’s disease as including irritability, apathy and dementia, alongside the movement and psychiatric features of the condition.
Mood and behavioural changes
Changes in mood or behaviour can also occur in Huntington’s disease.
These may include:
- Depression
- Anxiety
- Irritability
- Impulsivity
- Apathy or loss of motivation
- Changes in personality
- Difficulty controlling emotions
These symptoms can be particularly difficult to identify as potential signs of Huntington’s disease because depression and anxiety are common and can occur for many reasons.
The NHS notes that changes in behaviour and personality, including irritability and impulsivity, can occur during Huntington’s disease.
Can Huntington’s disease start with depression or anxiety?
It can.
Mood and behavioural changes may occur as part of Huntington’s disease, sometimes before more recognisable movement symptoms develop.
For example, someone may experience persistent depression, anxiety, irritability or changes in behaviour alongside subtle problems with concentration or coordination.
This does not mean that depression or anxiety on their own are signs of Huntington’s disease. They are common symptoms with many possible causes.
However, if significant changes in mood or behaviour occur alongside a family history of Huntington’s disease or other changes in movement and thinking, it is worth discussing them with a healthcare professional.
The UK Genomics Education Programme highlights the variable clinical presentation of Huntington’s disease and notes that psychiatric features can include anxiety, depression and, less commonly, psychosis.
At what age does Huntington’s disease usually start?
Huntington’s disease most commonly develops between the ages of 30 and 50, although there is considerable variation.
The age at which symptoms begin can differ between members of the same family.
This means that knowing the age at which a parent or another relative developed Huntington’s disease does not allow you to predict exactly when symptoms would begin in another family member.
There is also a rarer form known as juvenile Huntington’s disease, where symptoms begin before the age of 20. Its presentation can differ from adult-onset Huntington’s disease and requires specialist assessment.
How is Huntington’s disease diagnosed?
A diagnosis of Huntington’s disease usually involves a combination of clinical assessment, family history and genetic testing.
A neurologist may ask about:
- Changes in movement or coordination
- Memory and concentration
- Mood and behaviour
- When symptoms first appeared
- How symptoms have changed over time
- Whether Huntington’s disease or unexplained neurological symptoms have affected relatives
A neurological examination can assess movement, coordination, reflexes, balance and other aspects of neurological function.
A brain scan, such as an MRI, may also be considered. This can help clinicians assess changes in the brain and investigate other possible causes of symptoms. An MRI is not, by itself, a test that confirms Huntington’s disease.
Genetic testing can be used to confirm a suspected diagnosis in someone who has symptoms.
If you are experiencing unexplained movement, cognitive or behavioural changes, a consultation with a private neurologist can help establish whether further investigation is appropriate.
How does genetic testing for Huntington’s disease work?
A Huntington’s disease genetic test looks for the genetic alteration in the HTT gene associated with the condition.
There are two important situations in which genetic testing may be considered.
Diagnostic testing is used when someone has symptoms that could be caused by Huntington’s disease and a clinician wants to confirm or exclude the diagnosis.
Predictive testing is offered to someone who is at risk because of their family history but who does not currently have symptoms.
A genetic test usually involves a blood sample. The laboratory analyses the person’s DNA to look for the relevant expansion within the HTT gene.
Predictive testing is different from having a genetic test simply because you are curious about your risk. It is a significant personal decision and should take place alongside appropriate genetic counselling.
What happens before predictive genetic testing?
If you have a parent with Huntington’s disease but do not currently have symptoms, you can choose whether to undergo predictive testing.
You should not feel pressured to make the decision quickly.
Before testing, genetic counselling provides an opportunity to discuss:
- Your family history
- Why you are considering testing
- What a positive result could mean
- What a negative result could mean
- How you might feel about receiving the result
- The potential impact on relationships and family planning
- What support would be available afterwards
The Huntington’s Disease Association describes predictive testing as a personal decision and advises people to consider the implications carefully. Predictive testing is available to adults aged 18 and over.
Dementech provides genetic counselling and predictive genetic testing for inherited neurological conditions including Huntington’s disease. Its genetic counselling process includes discussion of family history, the implications of testing, the inheritance pattern and the options available to the individual.
What happens during a Huntington’s disease genetic test?
The exact process can vary between services, but predictive testing generally involves counselling before the blood test and support when the result is given.
Genetic counselling
The first stage is understanding what testing would mean for you personally.
A genetic counsellor or appropriately trained healthcare professional can talk through your family history, your reasons for considering testing and the possible outcomes.
This is particularly important because predictive testing can provide information that has implications for your future, even if you do not currently have symptoms.
The blood test
The genetic test itself normally involves taking a blood sample.
The laboratory analyses the DNA to determine whether the relevant Huntington’s disease gene expansion is present.
Receiving the result
Predictive testing is normally structured so that the result is explained with appropriate support rather than simply being communicated without context.
This gives you an opportunity to discuss what the result means and what support or follow-up may be appropriate.
What does a positive Huntington’s disease test mean?
A positive predictive genetic test means that the disease-causing HTT gene expansion has been inherited.
For someone undergoing predictive testing, this means they will develop Huntington’s disease at some point in their lifetime.
However, there is an important limitation to what genetic testing can tell you.
A positive result does not tell you exactly when symptoms will begin, which symptoms you will experience first or how quickly the condition will progress.
This is one of the reasons why predictive testing is such a personal decision.
The result may affect decisions about relationships, having children, career plans and the future. It can also have implications for other family members because Huntington’s disease is inherited.
What does a negative Huntington’s disease test mean?
A negative predictive test means that the person has not inherited the disease-causing Huntington’s disease gene expansion.
For someone with a parent who has Huntington’s disease, this means they will not develop Huntington’s disease due to that familial gene alteration and cannot pass that particular alteration on to their children.
A negative result can therefore provide significant reassurance to someone who has lived with uncertainty about their genetic risk.
What is the chance of inheriting Huntington’s disease?
If one biological parent has the disease-causing Huntington’s disease gene expansion, each child has a 50% chance of inheriting it.
This applies to each pregnancy independently. It does not mean that if one child inherits the gene, the next child is less likely to inherit it.
Huntington’s disease follows an autosomal dominant inheritance pattern, meaning only one copy of the altered gene is needed for the condition to develop.
If Huntington’s disease runs in your family and you are unsure about your own risk, speaking to a genetic counsellor can help you understand your individual circumstances.
Should I have genetic testing for Huntington’s disease?
There is no universally right answer.
Some people want to know whether they have inherited the gene so they can make decisions about their future. Others would rather not know unless symptoms develop.
Both responses are understandable.
Predictive testing should therefore be considered carefully rather than treated as a straightforward medical test. The psychological and practical consequences of receiving either result should be discussed beforehand.
The NHS specifically notes that predictive testing is a person’s choice and that some people decide not to have the test, particularly because there is currently no way to prevent Huntington’s disease from developing in someone who has inherited the gene.
If you are considering testing, Dementech’s genetic counselling service can provide specialist guidance around inherited neurological conditions and the implications of genetic testing.
What happens after a Huntington’s disease diagnosis?
Receiving a Huntington’s disease diagnosis does not mean that everything changes immediately.
The condition generally progresses gradually, and treatment focuses on managing symptoms, maintaining independence and supporting quality of life.
Different aspects of the condition may require support from different specialists.
This can include:
- Neurology
- Psychiatry
- Psychology
- Physiotherapy
- Occupational therapy
- Speech and language therapy
- Dietetic support
Because Huntington’s disease can affect movement, communication, swallowing, cognition and mental health, a multidisciplinary approach can become increasingly important as symptoms change.
Dementech provides Huntington’s disease treatment through a multidisciplinary service that includes neurology, speech and language therapy, occupational therapy, dietetics, psychology and psychiatry.
Can Huntington’s disease be treated?
There is currently no cure for Huntington’s disease, and there is no treatment that can prevent symptoms from developing in someone who has inherited the disease-causing gene.
However, treatment can help manage symptoms and support quality of life and independence.
Treatment is tailored to the symptoms affecting each person.
This may include support for involuntary movements, mood and behavioural changes, communication difficulties, swallowing problems, nutrition and mobility.
Dementech takes a multidisciplinary approach to Huntington’s disease, with specialists working across neurological, psychological and physical aspects of care. The clinic also uses technology such as the PKG to monitor symptoms.
You can find out more about Huntington’s disease treatment at Dementech if you have already received a diagnosis or are looking for specialist support.
What should I do if Huntington’s disease runs in my family?
If one of your parents has Huntington’s disease, you may understandably have questions about your own risk.
You do not need to wait until you develop symptoms before discussing your options.
A GP can refer you to an appropriate specialist, while a genetic counsellor can help you understand your inheritance risk and consider whether predictive testing is right for you. The NHS recommends speaking to a GP if you think you may have Huntington’s disease or if a parent has the condition and you want to know whether you are at risk.
If you are already experiencing symptoms such as involuntary movements, changes in coordination, cognitive difficulties or unexplained changes in mood or behaviour, a neurological assessment may also be appropriate.
Dementech’s movement disorder service includes Huntington’s disease alongside other neurological conditions affecting movement.
Huntington’s disease assessment and treatment at Dementech
Dementech Neurosciences provides specialist assessment and treatment for people with Huntington’s disease, with care tailored to the physical, cognitive and psychological effects of the condition.
The clinic’s multidisciplinary approach brings together neurologists and specialists including psychologists, psychiatrists, speech and language therapists, occupational therapists and dietitians.
Dementech also provides genetic counselling and predictive genetic testing for inherited neurological conditions including Huntington’s disease.
Whether you are concerned about early symptoms, have a family history of Huntington’s disease or are considering predictive genetic testing, a specialist consultation can help you understand your options and what to expect next.
Frequently asked questions about Huntington’s disease
What are the first signs of Huntington’s disease?
Early signs can include small involuntary movements, clumsiness, coordination problems, difficulty concentrating or planning, memory problems, depression, anxiety, irritability and changes in behaviour or personality. Symptoms vary between individuals.
Can Huntington’s disease start with depression?
Yes. Depression and other psychiatric symptoms can occur as part of Huntington’s disease and may appear alongside or before more obvious movement symptoms. However, depression on its own is not an indication that someone has Huntington’s disease.
At what age does Huntington’s disease usually start?
Huntington’s disease most commonly begins between the ages of 30 and 50, although symptoms can develop earlier or later.
How is Huntington’s disease tested?
A blood test can analyse the HTT gene to identify the genetic alteration associated with Huntington’s disease. Genetic testing can be used to help confirm a diagnosis in someone with symptoms or as predictive testing for an adult who may have inherited the gene.
If a parent has Huntington’s disease, will I get it?
Not necessarily. If one biological parent carries the disease-causing gene expansion, each child has a 50% chance of inheriting it.
Does a positive genetic test tell you when Huntington’s disease will start?
No. A positive test can establish that the disease-causing gene expansion has been inherited, but it cannot tell you exactly when symptoms will begin, how you will be affected or how quickly the condition will progress.
Can Huntington’s disease be cured?
There is currently no cure for Huntington’s disease. Treatment focuses on managing symptoms, maintaining independence and supporting quality of life.
Can you have Huntington’s disease without knowing?
Yes. Early symptoms can be subtle and may initially be attributed to other causes. This can be particularly difficult when there is no known family history of the condition.
References
- NHS. Huntington’s disease. Information on symptoms, inheritance, diagnosis, genetic testing and treatment.
NHS: Huntington’s disease - NHS Genomics Education Programme. Presentation: Clinical suspicion of Huntington disease. Information for healthcare professionals on clinical presentation, genomic testing and predictive testing pathways.
- NHS Genomics Education Programme. Presentation: Patient with a family history of Huntington disease. Information on inheritance and predictive, diagnostic and prenatal testing.
- Huntington’s Disease Association. A genetic testing guide. Information on diagnostic and predictive genetic testing for Huntington’s disease.
- Huntington’s Disease Association. Genetics of Huntington’s disease. Information on inheritance, CAG repeats and predictive testing.
- Guy’s and St Thomas’ NHS Foundation Trust. Huntington’s disease. Information on diagnosis, genetic testing and multidisciplinary treatment.
- University Hospital Southampton NHS Foundation Trust. Huntington disease (HD) – patient information. Information on genetic testing, symptoms and what genetic testing can and cannot predict.
