Huntington’s Disease

What is Huntington’s Disease?

Huntington’s Disease is a genetic, progressive, degenerative brain disorder that causes nerve cells in certain areas of the brain to break down over time. This damage to the brain impacts movement, thinking, behavior and communication. Symptoms usually begin in adulthood, but they can also impact children or adolescents in rare cases. The disease worsens gradually and leads to increasing physical and cognitive challenges.

Who is Affected?

Huntington’s Disease affects individuals with an inherited gene.

For those who have inherited the gene, symptoms typically appear between age 30 – 50.

What Are the Causes and Risk Factors?

Huntington’s Disease is caused by a genetic change in a single gene. This leads to the production of an abnormal protein that causes eventual damage to brain cells.

Every biological child of a parent with Huntington’s Disease has a 50% chance of inheriting the gene that causes the disease.

There is no known way to prevent the disease if someone has the inherited gene. Genetic counseling for children of affected parents can help individuals and families make informed decisions about genetic testing and family planning.

What are the Signs & Symptoms of Huntington’s Disease?

Huntington’s Disease impacts different parts of the brain. Symptoms will vary from person to person based on the areas of the brain affected.

Changes to personality & mood may include:

• Depression or anxiety
• Irritability or impulsive behavior
• Personality changes
• Loss of motivation

Movement-related symptoms may include:

• Involuntary movements (known as chorea)
• Changes in walking or balance
• Muscle stiffness or rigidity
• Difficulty with coordination

Cognitive symptoms may include:

• Trouble with thinking, judgement and memory
• Difficulty planning or organizing tasks
• Slower processing of information

Speech & swallowing difficulties may include:

• Slurred or slowed speech
• Trouble swallowing
• Unintended weight loss due to eating difficulties

How is Huntington’s Disease Diagnosed?

Diagnosis is based on a combination of family history, symptom evaluation, neurological examination and genetic testing.

What Tests Are Used?

• Genetic testing to identify the Huntington’s gene mutation
• Neurological examination
• Brain imaging to assess changes
• Cognitive and psychological assessments

How is Huntington’s Disease Treated?

There is currently no cure for Huntington’s Disease and no treatments that slow the disease progression. Treatment focuses on managing symptoms and supporting quality of life.

Lifestyle

• Establishing structured daily routines
• Maintaining a safe home environment
• Nutritional support to address weight loss

Devices

• Mobility aids
• Adaptive devices to support daily activities

Medical

• Medications to manage involuntary movements
• Medications to help with mood, behavior or sleep disturbances

Surgical

• There are no surgical treatments

Other

• Counseling and support for patients and caregivers, including genetic counseling for any children
• Physical therapy to support movement and balance
• Speech therapy to address difficulties with swallowing or communication
• Occupational therapy to assist with daily tasks

When to See Your Doctor

You should talk to your healthcare provider if there is a family history of Huntington’s Disease to discuss genetic counseling and possible family planning considerations.

You should see your doctor if you or your loved one experiences unexplained movement changes, personality shifts, cognitive decline or difficulties with speech or swallowing.

When to Seek Emergency Medical Care

You should seek emergency medical care if your symptoms suddenly worsen, there are serious swallowing problems, severe falls or changes in consciousness.

If you are concerned about memory changes, uncontrolled movements or changes in personality, you should talk to your primary care provider.

If you have a possible family history of Huntington’s Disease, talk to your healthcare provider about genetic counseling.