What Is Huntington’s Disease?

The condition may lead to uncontrolled movements, declines in intellectual abilities, and emotional and psychiatric problems. Treatment is typically based on what symptoms you have and may include multiple medications.

While there is no cure, treatment can help you live more comfortably with Huntington’s disease.

Types of Huntington’s Disease

Signs and Symptoms of Huntington’s Disease

Huntington’s disease is a progressive disorder, meaning its symptoms get worse over time.

With early-stage Huntington’s, they include the following:

• Behavioral or mood disturbances, including irritability, paranoia, apathy, depression, and anxiety
• Clumsiness or poor balance
• Hallucinations
• Impaired ability to smell or detect odors

Symptoms of middle-stage Huntington’s include those above as well as these:

• Dystonia, or involuntary muscle contractions that cause repetitive or twisting movements
• Problems with balance and walking
• Chorea, a movement disorder that causes involuntary, irregular, unpredictable muscle movements that make you look restless or fidgety
• Slowed reaction times
• General muscle weakness
• Weight loss
• Problems speaking
• Stubborn mood

People with late-stage Huntington’s may experience all of the above as well as the following:

• Muscle rigidity or tension
• Bradykinesia, or problems initiating and continuing body movements
• Severe chorea
• Significant weight loss
• Problems speaking
• Problems walking
• Difficulty swallowing

As the condition progresses, you may need assistance with self care and in engaging in normal, day-to-day activities.

• Children tend to have only mild chorea early on and instead become stiff and rigid in their movements.
• Difficulties with speaking and swallowing appear earlier in the disease.
• Some children have seizures, which are almost never seen in adults with Huntington’s.
• Young people have an increasingly difficult time learning new information or forming new memories.

Young people are often misdiagnosed with attention-deficit/hyperactivity disorder, autism spectrum disorder, or behavior issues before being diagnosed with Huntington’s.

Symptoms tend to progress more quickly in children.

Causes and Risk Factors of Huntington’s Disease

In people with Huntington’s, the HTT gene mutation causes a DNA segment called CAG to be repeated more times than normal. The greater the number of repeats, the more likely you are to develop the disease.

Most people with Huntington’s have at least one parent with the condition. However, in rare instances, it’s caused by a new mutation in the HTT gene, meaning the condition develops for the first time in the affected person and is not inherited from a parent.

How Is Huntington’s Disease Diagnosed?

If you have a family history of Huntington’s or show signs or symptoms of the condition during a general physical exam, your doctor may refer you to a neurologist for further evaluation.

Your neurologist may also perform tests to check these areas:

• Memory
• Decision-making abilities
• Brain function
• Language skills

You may be referred for imaging tests designed to assess the structure or function of your brain, including magnetic resonance imaging (MRI) or computerized tomography (CT), which show detailed images of the brain. These scans may reveal changes in areas affected by Huntington’s disease.

MRI and CT scans can also help rule out other conditions that may be causing symptoms.

Your neurologist may also ask about symptoms related to your mood and mental status. Based on your responses, you may be referred to a psychiatrist for an evaluation of these areas:

• Emotional state
• Behavior
• Judgment and decision-making abilities
• Coping skills
• History of substance abuse

Genetic Testing for Huntington’s Disease

A genetic counselor may work with you beforehand to explain the benefits and drawbacks of learning the results.

Not all insurance plans will cover predictive testing, and it’s usually not allowed for children under age 18.

Treatment and Medication Options for Huntington’s Disease

In addition, there are steps you can take to help you manage day-to-day activities with Huntington’s.

Medication Options

Vesicular Monoamine Transporter 2 Inhibitors

These are used to control chorea. Potential side effects include drowsiness, restlessness, and depression.

• deutetrabenazine (Austedo)
• tetrabenazine (Xenazine)
• valbenazine (Ingrezza)

Antipsychotics

These can help control violent outbursts, agitation, and other symptoms of mood disorders or psychosis. One side effect is the suppression of muscle movements, so they can be used to treat chorea, too. However, these medications may worsen dystonia and cause restlessness and drowsiness.

• aripiprazole (Abilify, Aristada)
• fluphenazine
• haloperidol
• olanzapine (Zyprexa)
• quetiapine (Seroquel)
• risperidone

Antiseizure Medications

Different anticonvulsants can treat chorea or mood issues.

• carbamazepine (Carbatrol, Epitol, Tegretol)
• clonazepam (Klonopin) (antiseizure)
• divalproex (Depakote)
• lamotrigine (Lamictal)
• levetiracetam (Keppra, Elepsia XR, Spritam)

Antidepressants

These can also address mood and behavior problems. Possible side effects with these medications include nausea, diarrhea, drowsiness, and low blood pressure.

• citalopram (Celexa)
• escitalopram (Lexapro)
• fluoxetine (Prozac, Sarafem)
• sertraline (Zoloft)

Another medication that may help suppress chorea is amantadine (Gocovri ER, Osmolex ER), an NMDA receptor antagonist that’s also used in Parkinson’s disease.

Other Treatments for Huntington’s Disease

Your neurologist may recommend that you see a mental health professional to help you manage the emotional effects of Huntington’s disease. A psychiatrist, psychologist, or clinical social worker may provide talk therapy to help with behavioral problems and provide you with coping strategies to help you manage the effects of the disease.

As Huntington’s makes it harder to control the muscles in the mouth and throat that you need to talk and eat, a speech therapist can help improve your ability to speak and help you with swallowing food. They can also teach you how to use communication devices as your speech symptoms worsen.

A physical therapist can teach you exercises that enhance strength, flexibility, balance, and coordination, which will help with the movement-related symptoms of Huntington’s. These exercises can help you stay mobile and prevent falls. If you need to use a walker or wheelchair, a physical therapist can teach you proper and safe use of them.

Finally, an occupational therapist can guide you on the use of assistive devices that improve functional abilities such as handrails to prevent falls at home. There are also devices that can help you manage day-to-day activities such as bathing, dressing, eating, and drinking.

Complementary and Integrative Therapies for Huntington’s Disease

If you want to explore any of these approaches, you should consult with your care team.

Prevention of Huntington’s Disease

Prognosis and Outlook for Huntington’s Disease

Huntington’s is a neurodegenerative disease with no cure. Because it’s a progressive disease, your symptoms will worsen over the rest of your life. However, the more mutations there are in the HTT gene, as revealed in genetic testing, the greater the rate of deterioration of motor, cognitive, and functional skills caused by Huntington’s.

Complications of Huntington’s Disease

If you have dystonia, or uncontrolled muscle movements or contractions, as well as swallowing difficulties due to your condition, you may experience faster progression and, as a result, a shorter life span.

More severe chorea, or involuntary, irregular, unpredictable muscle movements, can lead to accidents and falls and serious injury, such as bone fractures and head trauma.

Behavioral issues associated with the condition such as depression can be severely disabling, causing distress to you and your family.

Support for People With Huntington’s Disease

Huntington’s takes a toll, both physically and emotionally, on people with the disease and their caregivers. It’s important to get help managing the day-to-day challenges. Resources are available from these organizations:

Huntington’s Disease Society of America 

For more than 50 years, this organization has been dedicated to supporting families affected by Huntington’s disease and searching for a cure. On its website, you’ll find educational resources, including tips on daily living and planning for the future, plus ways to connect with support groups, social services, and treatment specialists. It also has a directory of centers of excellence where you can find multidisciplinary care.

Huntington’s Disease Youth Organization

Geared toward people under age 35, this group addresses the needs of children and young people whose parents have the disease or who have the disease themselves. The organization sponsors social media sites where you can connect with others with similar experiences, as well as summer camps.

Parkinson and Movement Disorder Alliance

People with Huntington’s and other movement disorders can share their stories and get practical information on the alliance's website. It also has a directory of support groups and providers.

Family Caregiver Alliance

If you have a loved one with Huntington’s, this group's website has educational and support resources for you. There are several online support groups, plus guides to help you navigate issues like family dynamics, care situations, financial and legal planning, and prioritizing your own mental and physical health.