Huntington’s Disease

Majella McConville

Huntington’s Disease Nurse Specialist

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.

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.

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)

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

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.

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

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

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.

Behavioural Problems• 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

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.

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

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.

Support Networks Available

Huntington’s Disease Department Belfast City Hospital 90263982Huntington’s Disease Association Northern Ireland

(HDANI) 24 hour helpline (Pat Mackay) 90221950(Errol Walsh) 21771812

www.hdlighthouse.org

• “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”