What is it?

Huntington’s disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition). It is a hereditary condition, which means it is passed down from parent to child. The disease is caused by a mutation in the huntingtin gene, leading to the production of an abnormal form of the huntingtin protein. 

This protein buildup damages nerve cells in certain parts of the brain, leading to the characteristic symptoms of Huntington’s disease. The condition usually becomes noticeable in mid-adult life, although it can develop at any age. There is currently no cure for Huntington’s disease, but treatment can help manage symptoms and improve quality of life.

Causes

Huntington’s disease is caused by a genetic mutation in the huntingtin gene. This mutation leads to the production of an abnormal form of the huntingtin protein, which accumulates in the brain and causes damage to nerve cells. The mutated gene is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from one parent to develop the disease. 

If a parent has the mutated huntingtin gene, each child has a 50% chance of inheriting the gene and eventually developing Huntington’s disease. However, the severity and age of onset of the disease can vary among individuals, even within the same family.

Symptoms

The symptoms of Huntington’s disease can vary widely, but they generally include a combination of motor, cognitive, and psychiatric disturbances. Motor symptoms often appear first and can include involuntary movements, such as chorea (jerky, dance-like movements), as well as difficulties with coordination and balance. 

Cognitive symptoms can include difficulties with memory, problem-solving, and judgment. Psychiatric symptoms can include depression, anxiety, irritability, and changes in behavior. As the disease progresses, these symptoms tend to worsen and can have a significant impact on daily functioning and quality of life.

Management

While there is no cure for Huntington’s disease, there are treatments and strategies available to help manage the symptoms and improve quality of life. Medications can be used to help control the movement and psychiatric symptoms of the disease. Physical therapy, occupational therapy, and speech therapy can also be beneficial in maintaining mobility, independence, and communication skills. 

Counselling and support groups can provide emotional support and practical advice for both individuals with Huntington’s disease and their families. 

In some cases, genetic counselling and testing may be recommended to help individuals understand their risk of developing the disease and make informed decisions about family planning.

What to remember

Huntington’s disease is a complex and challenging condition that can have a significant impact on individuals and their families. While there is currently no cure, ongoing research and advances in treatment offer hope for better management of the disease in the future. By raising awareness and supporting individuals with Huntington’s disease, we can work towards improving the quality of life for those affected by this condition.

Support and understanding from the community can make a significant difference in the lives of those with Huntington’s disease, and it is important to continue advocating for resources and research to ultimately find a cure for this debilitating condition.