Huntington's Disease is an inherited neurodegenerative disorder caused by a mutation on chromosome 4 that results in nerve cell death in the brain. It causes progressive problems with movement, cognition, and behavior. Symptoms typically appear between ages 30-50 and include chorea, dysarthria, dysphagia, and changes in mood. It is managed through a multidisciplinary approach including speech therapy, nutrition management, and behavioral strategies. Currently there is no cure and improved specialized care is still needed for those affected by this disease.

1. Huntington’s Disease
Majella McConville
Huntington’s Disease Nurse Specialist

2. What is Huntington’s Disease
• It is an inherited – neuro-degenerative disorder, of which there is
no cure at present. First described in 1872 by George Huntington.
• Huntington’s Disease is caused by a mutation in the gene coding
for a certain protein Huntingtin (HTT) on the short arm
chromosome 4. This mutation provides an altered form of
Huntingtin, resulting in the death of nerve cells in some areas of the
brain. The death of these cells affects virtually everything about the
person.
• It is a progressive disease affecting the individuals ability to walk,
talk, think and communicate. Other symptoms include uncontrolled
movements, changing mood and behaviour and altered thought
processes.
• Individuals vary in presentation and symptomatology. The average
age on onset is 40 years old but range is wide and varied.

3. Genetics of Huntington’s Disease
• Huntington’s Disease is an autosomal dominant
disorder.
• It is carried by a single faulty gene.
• It is inherited by both males and females.
• Children who have one parent with Huntington’s
Disease have a 50% risk of inheriting the faulty gene.
• If a person inherits the Huntington’s Disease gene they
will develop the illness at some point in their life.
• A predictive or pre-symptomatic blood test is available
to people over 18. Set protocol for assessing attitude,
knowledge and experience of Huntington’s Disease.

4. Prevalence Huntington’s Disease in NI
• Approx 12-14 in every 100,000 population.
• Every person affected 6-8 people “at risk”.
• “To understand the problems in getting at the
true prevalence you have to understand the
shadows people are walking out of.”
(Nancy Wexler – Geneticist that led the team
that located the gene)

5. Symptoms of Huntington’s Disease
and how they should be managed

6. Dysarthria – ( Difficulty in speaking)
• Transfer of information requires a complex
integration of thought, muscle control and
breathing, all these are affected in Huntington’s
Disease.
• Those affected with Huntington’s Disease have
difficulty beginning conversations and putting
thoughts into words. They may suffer short-term
memory problems, poor attention span and
concentration. As Huntington’s Disease
progresses difficulties in communication can be a
significant factor in relation to difficult behaviour.

7. Strategies to Aid Communication
On going assessment by Speech and Language
Therapist ( communication boards, picture charts
etc)
- minimise distractions
- listener accepting responsibility for
conversational exchange
- Allow time for a response
- Use yes/no questions
- Never pretend to understand, individual is still
very aware and able to comprehend

8. Dysphagia ( difficulty in swallowing )
Eating and swallowing difficulties are one of
the most troublesome complications
of Huntington’s Disease due to a variety of
factors.
- Deterioration of the muscles involved in
swallowing
- Changes in appetite
- Choreiform movements

9. -
Managing these difficulties involves both S.A.L.T and dietician.
S.A.L.T therapy will recommend general strategies to alleviate
difficulties and prevent choking.
allow time
prevent distractions
consistency and texture of food
use of aides
posture whilst eating
supervision or assistance when eating if required
Dietician – will asses the weight and calorific intake and adjust
the diet accordingly.
Huntington’s Disease sufferers normally require twice as many
calories and in cases more due to the extent of involuntary
movements.
As the disease progresses and the swallowing deteriorates,
some people eventually require peg feeding.

10. Behavioural Problems
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Drive and imitative
Mental flexibility/ doing 2 tasks at once
Neglect of personal hygiene and self care
Lack sympathy and empathy
Irritability and aggression
Denial of illness
Behavioural Management
Identify the main problems
Assess the problems and look at possible causes E.g health, environment,
communication, others behaviour
Flexible and willing to try several strategies
Set realistic goals
Use all members of the team

11. Neurological lack of Self Awareness/
Impaired Judgement
• Neurological damage, sometimes referred to as organic
denial is when the person is unable to recognise their
disabilities or support needs.
• Can prove very difficult for carers when the person can no
longer accept or recognise their capabilities. Try to avoid
confrontation when possible and assess the risk.
• People with Huntington’s Disease can find it very difficult
to wait and demand immediate recognition of their needs.
They may appear impatient and selfish but this behaviour is
primarily due to neurological damage and the inibility to
control their impulses.
• Accepting this difficulty as part of the illness will help in
management, so when possible try and meet demands as
soon as is practically possible or offer a realistic time frame.

12. Present Difficulties in Huntington’s
Disease Care Provision
• Individuals with Huntington’s Disease do not
fit neatly into any specific area.
• Lack of specialist, co-ordinated care for
affected individuals from diagnosis to
continuing care.
• No specialist unit to provide day care, respite
and terminal care for affected individuals.
• Lack of understanding by professionals of the
disorder

13. My Role/ Multidisciplinary Approach
• Support those affected by Huntington’s Disease. It is a
familial disease and everyone is affected, be it
physically, emotionally, mentally or socially.
• It has to be a multidisciplinary approach to ensure that
each individual is holistically given the best help and
support available, allowing them to remain as
independent for as long as they possibly can.
• Huntington’s Disease can be and is a rather complexed
and complicated disease and is certainly not a one size
fits all approach. Although there is no cure as yet, the
symptoms can be managed allowing a much better
quality of life for a longer period of time.

14. Support Networks Available
Huntington’s Disease Department
Belfast City Hospital 90263982
Huntington’s Disease Association Northern Ireland
(HDANI) 24 hour helpline (Pat Mackay) 90221950
(Errol Walsh) 21771812
www.hdlighthouse.org

15. • “Life is a disease, it begins at birth and is
only curable by death. It is what we do
in between that makes all the
difference”