Huntington’s Disease

What is Huntington's Disease?

Huntington's disease (HD) is an inherited disorder that causes nerve cells in the brain to gradually break down and die.

• The disease affects a person's movement, thinking, and mental health. People living with HD develop uncontrollable, dance-like movements that can affect the fingers, feet, face, or torso. These symptoms can worsen over time or when the person is nervous or distracted. They also experience mood changes like depression, anxiety, and suicidality. Memory and thinking changes may also occur.

Typically, the symptoms of the illness begin between the ages of 35 and 50, although they can start as early as childhood or as late as adulthood.

Regardless of the age at which it begins, HD worsens over time. Medications are available to help manage symptoms; however, treatments can't prevent the disease's physical, mental, and behavioral decline.

Symptoms

Early symptoms of HD can vary from person to person, but often include changes in movement, thinking, and behavior.

Movement

• Involuntary jerking or writhing movements
• Muscle rigidity or contracture
• Slow or unusual eye movements
• Trouble walking or keeping posture and balance
• Trouble with speech or swallowing

Thinking

• Problems with attention or judgment
• Trouble solving problems or making decisions
• Trouble organizing, prioritizing, or focusing on tasks
• Problems learning or remembering new things, putting thoughts into words, or answering a question

Behavior

• Mood swings or feeling easily annoyed
• Feeling uninterested, depressed, or angry
• Thoughts of suicide, severe depression, or loss of touch with reality
• Pulling away from friends and family

Everyone experiences HD differently, and some symptoms may change as the disease progresses.

Risk Factors

Children with a parent who has HD have a 50 percent chance of inheriting the gene variant that causes the disease. If a child does not inherit the variant, they won't develop the disease and can't pass it on to future generations.

Complications

After HD begins, a person's ability to function gradually declines. Eventually, a person with Huntington's disease requires help with all activities of daily living and care. Late in the disease, the person will likely be confined to a bed and unable to speak. Someone with Huntington's disease is generally able to understand language and is aware of family and friends, though some may not recognize family members. The time from the first symptoms to death is often about 10 to 30 years. Common causes of death include:

• Pneumonia or other infections
• Injuries related to falls
• Complications related to trouble swallowing

Prevention

People with a known family history of HD may be concerned about whether they could pass the Huntington gene to their children. They might consider genetic testing and family planning.

If an at-risk parent is considering genetic testing, it can be helpful to meet with a genetic counselor who can explain what a positive test result might mean. Also, couples may need to make additional decisions about whether to have children or consider alternatives. They may decide to pursue prenatal testing for the gene or opt for in vitro fertilization with donor sperm or eggs.

Diagnosis

HD specialists can make a diagnosis based on a person's symptoms, neurological and lab tests, brain imaging, family history, and genetic testing. After the diagnosis, other specialists can help you manage symptoms, including mental health professionals, genetic counselors, and speech-language therapists.

Treatment

There is no treatment that can stop or reverse HD, but certain medications can help manage symptoms such as involuntary movements, depression, and severe irritability. Your healthcare professionals will regularly review and adjust your treatment and treatment goals as needed. There are research trials available which involve medications that may prevent the progression of the disease. In addition to medication, your healthcare professional may recommend the following:

• Psychotherapy, speech, physical, and occupational therapy
• Lifestyle and home remedies
• Nutrition modifications