Huntington Disease

Huntington disease is a genetic disorder that affects the brain, leading to progressive neurological symptoms. It is caused by a mutation in the huntingtin gene, which leads to the accumulation of abnormal proteins in the brain.

Symptoms

The main symptoms of Huntington disease include:

• Involuntary movements, such as chorea (jerky, dance-like movements)
• Difficulty with balance and coordination
• Cognitive changes, such as difficulty with decision-making, planning, and organizing
• Mood changes, such as depression, irritability, and anxiety
• Difficulty with speech and swallowing

Symptoms typically develop in midlife, but can appear earlier or later depending on the individual.

Causes

Huntington’s disease is caused by a mutation in the huntingtin gene, which produces a mutant form of the huntingtin protein that accumulates in the brain. The exact mechanism by which this leads to neurological symptoms is not fully understood.

Treatment

There is currently no cure for Huntington disease, and treatment is focused on managing symptoms and improving quality of life. This may include:

• Medications to manage movements and psychiatric symptoms
• Physical therapy and exercise to improve mobility and balance
• Speech therapy and nutritional support to address swallowing difficulties
• Counseling and support groups to address emotional and social aspects of the disease

Research is ongoing to investigate new treatments for Huntington disease, including gene therapies and drugs that target the underlying mechanisms of the disease.