Understanding Huntington's Disease

What is Huntington's Disease?

Huntington's disease is a rare neurological disorder caused by a faulty gene located on chromosome four. This genetic mutation results in the overproduction of a protein called ‘Huntingtin’, which progressively damages the brain. Both men and women can be affected by this condition, and each child of an affected parent has a 50% chance of inheriting the gene. If a person inherits the faulty gene, they will eventually develop the disease, though they may not show symptoms immediately.

Age of Onset and Variants

The most common age for symptoms to begin is between 35 and 55 years. However, there are rarer forms of the disease, such as Juvenile Huntington's, which affects children under 20, and a late-onset version that can manifest in people in their 60s, 70s, or even 80s.

Symptoms of Huntington's Disease

Physical and Motor Symptoms

Huntington's disease affects several areas:

• Physical and Motor Functions: This includes involuntary movements (chorea), difficulties with swallowing, and impaired speech.
• Cognitive Symptoms: Challenges with planning, reasoning, and decision-making, along with difficulties in organisation and motivation.
• Emotional Changes: Symptoms such as depression, mood swings, irritability, and problems with emotional regulation.

Chorea and Other Movement Disorders

Chorea, which means "dance" in Greek, describes the involuntary movements affecting the arms, legs, trunk, and head. Swallowing difficulties and slurred speech are common as the disease progresses.

Cognitive and Emotional Impact

Patients often experience cognitive impairments such as poor memory, difficulty with multitasking, and challenges in interpreting facial expressions. Emotional symptoms include depression, frustration, and apathy. These can lead to impulsive behaviour and social isolation.

Management and Support

Managing Huntington's disease involves working with specialist services such as GPs and psychiatric care. Support is crucial for handling repetitive loss, changes in family life, and social behaviour. It’s important for individuals to engage with specialist Huntington's disease services to address these challenges and ensure comprehensive care.

Conclusion

Huntington's disease presents a complex array of symptoms that affect physical, cognitive, and emotional health. Early diagnosis and ongoing support from specialists can help manage the disease and improve the quality of life for those affected.