Understanding Huntington's Disease: Symptoms, Causes, and Treatment Options

Huntington’s Disease (HD)

Huntington’s disease (HD) is a progressive genetic disorder that affects the brain’s neurons. It is caused by a mutation in the HTT gene, which codes for a protein called huntingtin. This mutation leads to the production of a toxic form of huntingtin that accumulates in the brain and causes damage to neurons.

HD is a fatal disease, with an average life expectancy of 15 to 20 years after symptoms begin. There is no cure for HD, but treatments can help to manage the symptoms.

Symptoms of HD

The symptoms of HD typically appear in adulthood, between the ages of 30 and 50. The most common symptoms are:

• Involuntary movements (chorea)
• Personality changes
• Cognitive decline
• Dementia

Other symptoms of HD can include:

• Difficulty with balance and coordination
• Speech problems
• Swallowing problems
• Seizures
• Weight loss
• Fatigue
• Depression
• Anxiety

Causes of HD

HD is caused by a mutation in the HTT gene, which is located on chromosome 4. This mutation leads to the production of a toxic form of huntingtin that accumulates in the brain and causes damage to neurons.

The HTT gene contains a region called a CAG repeat. The number of CAG repeats in the gene determines the age at which symptoms of HD will appear and the severity of the disease. People with more CAG repeats will develop symptoms of HD at a younger age and will have a more severe course of the disease.

Inheritance of HD

HD is an autosomal dominant disorder, which means that a person only needs to inherit one copy of the mutated HTT gene from a parent to develop the disease. People who inherit two copies of the mutated HTT gene will have a more severe form of the disease.

Diagnosis of HD

HD is diagnosed based on a person’s symptoms and family history. A genetic test can confirm the diagnosis.

Treatment for HD

There is no cure for HD, but treatments can help to manage the symptoms. These treatments include:

• Medications to reduce involuntary movements
• Speech therapy to improve speech
• Physical therapy to improve balance and coordination
• Occupational therapy to help with daily activities
• Psychological counseling to help with depression and anxiety

Prognosis for HD

The prognosis for HD is poor. The average life expectancy after symptoms begin is 15 to 20 years. However, some people with HD may live longer, and some may have a milder course of the disease.

Prevention of HD

There is no way to prevent HD. However, genetic testing can be used to identify people who are at risk for developing the disease. People who are at risk can choose to have children or not, and they can also take steps to reduce their risk of passing on the mutated HTT gene to their children.

Resources for HD

There are a number of organizations that provide support and information to people with HD and their families. These organizations include:

• The Huntington’s Disease Society of America
• The National Institute of Neurological Disorders and Stroke
• The American Brain Foundation

Conclusion

HD is a devastating disease that affects the brain and the body. There is no cure for HD, but treatments can help to manage the symptoms. If you think you may be at risk for HD, talk to your doctor.