What Is Huntington's Disease?

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Huntington’s disease (HD) is a progressive neurodegenerative disease that is passed on genetically from parent to child. Classic symptoms include uncontrollable movements in the face, trunk, arms, and legs, as well as problems thinking clearly, and mood changes, like anxiety, depression, and irritability. While Huntington’s disease cannot be cured or slowed down, certain symptoms can be managed with medication.

Huntington's Disease Symptoms

As many as 250,000 people in the United States have or will develop Huntington’s disease. Symptoms usually begin between the ages of 30 and 50, although juvenile HD targets individuals before the age of 20. 

The symptoms of Huntington's disease slowly get worse over time and tend to vary based on the disease stage:

Early Stage

Early symptoms of HD include:

  • Difficulty learning new things or making decisions
  • Problems with driving
  • Irritability, mood swings
  • Involuntary movement or twitching
  • Coordination challenges
  • Short-term memory problems

Middle Stage

As Huntington’s disease progresses into the middle stage, the person has trouble with swallowing, speaking, walking, memory and concentrating on tasks. Weight loss and malnutrition is common.

The classic writhing movements (chorea) of HD may become very pronounced and interfere significantly with daily functioning.

The person may also develop some obsessive behaviors.

Late Stage HD

Late-stage Huntington’s disease symptoms consist of the inability to walk or talk. Full care from a caregiver is required.

Instead of chorea, a person may have rigidity, slowed movements (called bradykinesia), and dystonia. People who have late-stage HD are at high risk for choking.

Pneumonia is the most common reason for death related to Huntington's disease.

Causes

With Huntington's disease, a faulty gene (called the HTT gene) creates a mutant protein, which leads to the death of nerve cells in a person's brain.

Nearly all cases of HD are hereditary, and the disease is inherited in an autosomal dominant pattern. This means that if your father or mother has HD, you have a 50% chance of having the HD gene.

If you inherit the faulty or altered HTT gene, you will most likely develop Huntington’s disease. However, if you don't, HD should not develop. The exception is rare cases where a de novo mutation occurs in the HD gene. In these instances, the disease cannot be traced to someone else in the family.

Diagnosis

The diagnosis of Huntington’s disease begins with a medical history and is confirmed with a blood test to look for the HTT gene.

Medical History

In addition to inquiring about possible symptoms of Huntington's disease, your doctor will want to obtain a detailed family history. Sometimes old medical records or autopsy reports are needed to complete this.

Genetic Blood Test

If you are experiencing symptoms of HD or have a family member with the disease, your doctor can order a genetic test to look for the HTT gene.

Prior to undergoing the test, it's important to speak to a genetic counselor—someone who can help you understand the potential test results. For instance, if the test is positive, your counselor can explain what that means for you and (if you have kids) your children's future health.

Treatment

There is no cure for Huntington’s disease, but medication and non-pharmacological therapies can be used to ease certain symptoms and improve a person's quality of life.

Medications

The symptoms of involuntary movements can be treated with Xenazine (tetrabenazine), the only drug approved by the U.S. Food and Drug Administration for Huntington's disease.

While effective, Xenazine is associated with potential adverse effects, such as:

  • Restlessness (akathisia)
  • Depression
  • Dizziness
  • Fatigue
  • Parkinsonism (movement features seen in Parkinson's disease)

Other medications can also be used to treat HD's cognitive, behavioral, and emotional symptoms. For example, benzodiazepines may be used to treat anxiety and chorea in HD, while atypical antipsychotics such as Zyprexa (olanzapine) may be used to treat chorea accompanied by psychosis, aggression, or impulsivity.

Rehabilitation Therapies

Exercising—through formal methods like physical therapy and occupational therapy, and informal ones such as walking and daily chores—may help relieve symptoms. Seeing a nutritionist in order to prevent malnutrition is also useful, as is seeing a speech and language therapist for swallowing problems.

Complementary Therapies

Complementary therapies that may be beneficial for people with Huntington's disease include music therapy, dance, and playing video games.

Coping

No doubt, there are numerous unique challenges to living with or caring for someone with Huntington's disease. Employing certain strategies can help you or your loved one navigate the path ahead.

Finding Support

It's normal to have many concerns if you or your loved one has been diagnosed with, or tested positive for, Huntington's disease. Knowing that there are many resources and support networks available can be helpful as you learn what to expect and how to cope.

One excellent resource is the Huntington's Disease Society of America. Besides educational tools, this organization coordinates support groups throughout the country, both online and in person. These are not only for people with Huntington's, but also for caregivers, family members, or people at risk for the disease.

Living Your Best

Adopting healthy lifestyle habits can improve the quality of life, functioning, dignity, and comfort of a person living with Huntington's disease.

Some of these healthy habits include:

  • Setting an everyday routine
  • Using cues and prompts, like a phone alarm, to signal when a task (for example, taking a medication) needs to be completed
  • Minimizing stress
  • Exercising daily
  • Engaging in enjoyable hobbies like listening to music or playing board games
  • Avoiding alcohol and smoking

Managing Mental Health Symptoms

Compared to physical symptoms, like chorea, the psychiatric symptoms associated with Huntington's disease, like depression and anxiety, can be equally—if not more difficult—to cope with and manage.

Prompt treatment of psychiatric symptoms is essential and may include a combination of medication and psychotherapy. Unfortunately, suicide is common in people with Huntington's.

If you are having suicidal thoughts, contact the National Suicide Prevention Lifeline at 1-800-273-8255 to speak with a trained counselor. If you or a loved one are in immediate danger, call 911.

Prognosis

The prognosis of Huntington’s disease is poor at this time. The average life expectancy following diagnosis ranges from 10 to 20 years.

A Word From Verywell

Huntington's disease is an incurable, fatal condition. Despite distressing symptoms, be at ease knowing that you (or your loved one, if you are a caregiver) can still find joy and meaning—perhaps through support networks, spiritual growth, or through your day-to-day approach to life.

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