Huntington’s disease is a neurodegenerative disease that affects approximately 12.3 people per 100,000 in the United Kingdom.^1,2 The disease typically begins in adults and leads to the slow decline of motor ability, cognitive function and psychiatric ability, which ultimately leads to death.²

George Huntingdon first described the disease in the 1870s, describing the dance-like movements’ associated with it.³ The underlying genetic cause of the disease was subsequently identified in 1993 as an expansion within a novel gene which causes a faulty huntingtin protein to be produced in the body.⁴ 

This article will examine the genetic nature, symptoms, treatment options and the use of social support networks in managing Huntington's disease.

Genetic basis of Huntington’s disease and neurodegenerative impacts

Huntington’s disease is caused by a dominant gene that can pass from parent to offspring.¹ Dominant genes express more strongly than recessive genes, masking a recessive gene's effects. As the gene in Huntington’s disease is dominant, its presence results in disease. In Huntington’s disease, this gene is expanded, resulting in the production of a protein with a longer front end than in other healthy forms of the huntingtin protein.¹ Whilst most patients have a family history of Huntington’s disease, sporadic cases can also arise from random mutations.¹ 

The function of healthy huntingtin protein remains unclear. However, there is evidence that the protein plays an important role in several processes, such as the development of the brain, transmission of signals between cells of the nervous system, and trafficking of contents throughout cells.^5,6 In Huntington’s disease, the faulty huntingtin protein triggers a cascade of events leading to the death of cells in the nervous system.⁶

Symptoms

Huntington’s disease affects three main areas: the mind, movement and mood. According to the NHS the symptoms can start between 30-50 years of age but may occasionally begin earlier or later. Symptoms include:

• Difficulties with memory
• Depression
• Short-lived involuntary movements
• Difficulty breathing, speaking and swallowing
• Difficulty moving
• Changes in mood and personality

Diagnosing Huntington’s disease can be emotional and challenging for patients and caregivers. Depending on its severity, the disease can be categorised into stages. However, in clinical practice, the terms early, moderate, and advanced are generally used.¹

Genetic Testing

A test, that can be performed using a blood sample, confirms the presence of the disease-associated gene in Huntington’s and can be used to diagnose or identify individuals who may develop it later in life. If you have a family history of Huntington’s disease, the NHS suggests that you can be referred to a genetic counsellor by your GP. However, some people choose not to test for the disease until symptoms appear.

Current Treatments 

Drug based treatments

​​There is no cure for Huntington’s disease or therapies to slow the progression of the disease. The main treatment options focus on managing symptoms to improve the patient's quality of life. 

Medicines can be prescribed to help patients experiencing depression, such as SSRI (selective serotonin reuptake inhibitors) type antidepressants‌.¹ Additionally, SSRIs may help to manage symptoms of anxiety.¹ 

Certain antipsychotic drugs can also be used to help manage mood swings and irritability.¹ Treatments can also be prescribed to help reduce involuntary movements associated with Huntington’s disease.¹ However, this may need to be reduced in the later stages of the disease due to the development of rigidity in the body.¹ 

If the patient experiences sleep disturbances, drugs to treat insomnia can also be prescribed by a healthcare professional.¹

Non drug based treatments

Alternatively, patients may wish to explore non drug based treatments. For example, physiotherapy can help aid movement and balance, whilst occupational therapy can help make the home safe and improve a patient’s independence.¹ 

Speech and language therapy can help to improve a patient’s speech, assess swallowing ability, and advise on dietary changes.¹ CBT (cognitive behavioural therapy) can be used to help manage symptoms of depression and anxiety in patients, and mental health teams can provide psychiatric support.¹ 

When patients cannot care for themselves, social support workers can help facilitate care at home or coordinate their move into a residential home.¹ Organisations like the Huntington’s Disease Association can also help to support patients and caregivers.

Research into novel therapeutics

There is currently no cure for Huntington’s disease or therapies that can slow disease progression. However, new research avenues are being pursued to create therapies which could be promising for future treatment of the disease. 

Reducing the expression of the huntingtin protein is being researched as one potential therapeutic approach.¹ The mutant protein produces toxic effects, so lowering the amount of the mutant protein could reduce downstream effects.¹ 

Several targets for traditional small-molecule therapies are also being explored to reduce the effects of the toxic protein rather than trying to reduce the amount of the protein.¹ 

Stem-cell-based therapies, which replace damaged cells with healthy ones, could also represent a promising therapy.¹

The Importance of Social Support Networks in Huntington’s

Social withdrawal is common in Huntington’s disease and can affect individuals at any stage of the disease.⁷ Social withdrawal, due to the behavioural and psychological changes experienced by the patient, can have negative impacts for both the patient and their caregivers. Therefore, social support networks are crucial to improve the quality of life for patients with Huntington’s Disease.

The role of Social support Networks

Social support networks for Huntington’s disease can take a variety of forms, and each network can work together to help improve the quality of life for the patient

• Family support: The family can provide emotional support to the individual and close relatives, who may also struggle during the diagnosis and as the disease progresses. If possible, the family can also aid with caregiving and daily assistance. Finally, the family can also be important for managing the family dynamics during the disease and can help alleviate caregiver stress
• Peer support: Caregivers and patients may consider connecting with other individuals affected by Huntington’s disease. This support network can be invaluable in sharing experiences and coping strategies that may benefit the individuals concerned
• Professional support: The medical team, social workers, and counsellors are essential social networks for those affected by Huntington’s disease. These networks can reduce caregiver burden, improve mental well-being, and facilitate access to patient care and resources

Some charities run social support network groups. To find a local support group, you could visit the Huntington Disease Association’s local support group page to find out more and contact a local group. Additionally, you can also access specialist advice through the Association support pages. The Brain Charity can also provide counselling for patients and for Scottish residents, the Scottish Huntington’s Association can help provide access to specialist support.

 Caregivers may also find it useful to access the Huntington Disease Associations webpage to learn more about care pathways. Resources can also be found on the Brain Charity’s website to help care for someone. The Scottish Huntington’s Association webpage also provides information of the different types of support available to patients in Scotland, such as future planning, financial worries and housing.

Summary 

Huntington’s disease is a neurodegenerative disease that affects patients’ mobility, speech and behaviour. The condition is associated with a particular genetic mutation that results in the production of a faulty protein. However, we do not entirely understand how the mutated protein causes disease, as the healthy protein has been implicated in a number of different roles within the brain. 

Genetic testing can be used to indicate whether or not someone carries the gene associated with Huntington’s and, therefore, whether the individual will develop the disease later in life. 

Treatment options for patients aim to reduce symptoms to improve quality of life, as there is currently no cure for the disease. Drug based options include antidepressants to manage mood, drugs to help reduce involuntary movements and antipsychotics to help manage mood swings. Alternatively, patients may wish to explore non drug based treatment options such as physiotherapy and speech and language therapy. 

Social support networks are essential to enhance quality of life through shared experiences, counselling and family networks. Several charities can help provide access to support to both patients and their caregivers.