Symptoms and Causes

Huntington's Disease

Huntington’s disease is a genetic condition that affects the

cells in your brain. It’s a progressive condition that gets
worse over time. Common symptoms affect your
movement, thoughts and feelings. Symptoms usually start
between the ages of 30 and 50. Treatment is available to
help you feel more comfortable.

Contents Overview Symptoms and Causes

Diagnosis and Tests Management and Treatment Prevention

Outlook / Prognosis Living With

Overview
What is Huntington’s disease?
Huntington’s disease is an inherited condition that causes
brain cells to slowly lose function and die. It affects the
cells in parts of your brain that regulate voluntary
movement and memory. Common symptoms include
uncontrollable movements and changes to your thinking,
behavior and personality. These symptoms get worse over
time.

What are the types of Huntington’s disease?

There are two types of Huntington’s disease:

Adult onset: This is the most common form. Symptoms

usually begin after age 30.

Early onset (juvenile Huntington’s disease): Early onset

affects children and teenagers. It’s very rare.

How common is Huntington’s disease?

Huntington’s disease affects an estimated 3 to 7 out of

every 100,000 people, most often people of European
ancestry (biological family comes from European descent).

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IMPORTANT SAFETY INFORMATION

AUSTEDO® XR and AUSTEDO® (deutetrabenazine)
tablets can cause serious side effects in people with
Huntington’s disease, including: depression, suicidal
thoughts, or suicidal actions. Do not start taking
AUSTEDO XR or AUSTEDO if you are depressed (have

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Symptoms and Causes

Huntington'sdisease

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Huntington’s disease is a progressive condition that affects your physical and

mental health.

What are the symptoms of Huntington’s

disease?
Huntington’s disease affects you both physically and
mentally. Physical symptoms include:

Uncontrolled movements like jerking or twitching

(chorea).

Loss of coordination (ataxia).

Trouble walking.

DiYculty swallowing (dysphagia).

Slurred speech.

Physical symptoms may start in small ways — for example,

diYculty holding a pen, clumsiness or losing balance — and
then get worse over time.

In addition, if you have Huntington’s disease, you may

develop:

Emotional changes like mood swings, depression and

irritability.

Problems with memory, focus and multitasking.

Trouble learning new information.

DiYculty making decisions and reasoning.

Your physical and mental symptoms may not affect your

daily life much at Urst. But over time, these symptoms will
make your usual tasks more diYcult to do on your own.

What is Huntington’s disease chorea?

One of the Urst physical symptoms of Huntington’s disease

is chorea. Chorea is unintended jerks or twisting
movements. Chorea usually affects your hands, Ungers and
facial muscles Urst. Later, it also makes your arms, legs and
torso move uncontrollably. Chorea can make speaking,
eating and walking more diYcult. It may affect your ability
to perform everyday activities, such as driving, as well.

What causes Huntington’s disease?

A genetic change (mutation) of the HTT gene causes
Huntington’s disease. The HTT gene makes a protein called
huntingtin. This protein helps your nerve cells (neurons)
function.

If you have Huntington’s disease, your DNA doesn’t have all

the information needed to make the huntingtin protein. As a
result, these proteins grow in an abnormal shape and
destroy (instead of help) your neurons. Your neurons die
because of this genetic mutation.

The destruction of nerve cells happens in the basal ganglia

or the region of your brain that regulates your body’s
movements. It also affects the brain cortex (surface of your
brain) that regulates your thinking, decision-making and
memory.

Is Huntington’s disease inherited?

Yes, you can inherit the genetic change (mutation) that

causes Huntington’s disease. You can develop this
condition if one of your biological parents carries the
genetic change and passes it on to you. This is an
autosomal dominant pattern of inheritance. In rare cases,
the genetic change happens without any history of the
condition in your biological family.

What are the risk factors for Huntington’s disease?

Anyone can develop Huntington’s disease, but it’s most

common if someone in your biological family has the
condition. If one of your parents has Huntington’s disease,
you have a 50% chance of also developing it.

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What are the complications of Huntington’s

disease?
Huntington’s disease is a progressive condition. This means
that your symptoms get worse over time. Complications
could include worsening symptoms, like:

Dementia (loss of brain function, memory loss,

personality changes).

Physical injury from involuntary movements or falls.

DiYculty swallowing, eating or drinking (malnutrition).

Inability to walk without assistance.

Infections (pneumonia).

Children diagnosed with juvenile Huntington’s disease may

experience seizures.

Diagnosis and Tests

How is Huntington’s disease diagnosed?
A healthcare provider, like a neurologist (a doctor
specializing in the brain and nerves), will diagnose
Huntington’s disease after performing a physical exam and
a neurological exam. They’ll look for symptoms of the
condition that affect your movements, like twitches and
jerking, as well as problems with your balance, re`exes and
coordination. Your neurologist will also want to know if
anyone else in your biological family has the condition.
Often, you’ll need a genetic test to conUrm the diagnosis.

Tests can rule out other conditions that cause similar

symptoms and conUrm a Huntington’s disease diagnosis.
Tests include:

Blood tests.

Genetic testing.

Imaging tests (magnetic resonance imaging

(MRI) and computed tomography (CT) scan).

What is genetic testing to diagnose Huntington’s

disease?

A genetic test is a blood test that looks for changes to your

DNA. Your healthcare provider draws a sample of your
blood and sends it to a lab to look at your DNA. The test
determines if you have a genetic change in the HTT gene. A
genetic counselor (someone who specializes in genetic
testing) will discuss the process and results with you.

Your provider may also ask if your biological family

members can come in for genetic testing, too. This can help
assess their risk of developing the condition or having a
future child with the condition.

Can you Fnd out if you have Huntington’s disease before

symptoms appear?

Yes. If one of your parents or siblings has Huntington’s

disease, your risk of having it is high. Predictive genetic
testing — testing for genetic conditions before symptoms
start — can tell if you have the gene change that causes
Huntington’s disease.

People have different responses to learning about a

condition they’ll get someday. Knowing about the gene
could help you make family plans and Unancial decisions.
But it could also be emotionally diYcult, especially since
you can’t prevent the condition. It’s essential to discuss
testing with your genetic counselor to see whether Unding
out early is the best decision for you.

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Management and Treatment

How is Huntington’s disease treated?
Huntington’s disease treatment focuses on helping you feel
more comfortable. There isn’t treatment available to stop,
slow or prevent symptoms. Because this condition affects
your physical, mental and emotional health, you may need
several types of treatment, including:

Physical therapy or occupational therapy.

Speech therapy.

Counseling.

Medications.

What medications treat Huntington’s disease?

Your healthcare provider may prescribe different

medications to address your symptoms. To treat chorea,
common medications include:

Tetrabenazine (Xenazine®).

Deutetrabenazine (Austedo®).

Haloperidol (Haldol®).

To manage emotional symptoms, your healthcare provider

may recommend:

Antidepressants like `uoxetine and sertraline.

Antipsychotic medications like risperidone

and olanzapine.

Mood-stabilizing medications like lithium.

Are there side effects of the treatment?

Each type of treatment comes with possible side effects.

For example, physical therapy may cause muscle soreness,
and medications to treat chorea may cause fatigue or low
blood pressure. Your healthcare provider will explain these
to you before you begin treatment so you can make an
informed decision about your health.

Who is on my care team?

Your care team may include the following healthcare
providers:

A neurologist.

A psychiatrist.

A genetic counselor.

A physical therapist.

An occupational therapist.

A speech therapist.

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Prevention
Can Huntington’s disease be prevented?
There’s no known way to prevent or reduce your risk of
Huntington’s disease. If you’re planning on expanding your
family, talk to a genetic counselor about genetic testing to
understand your chances of having a child with a genetic
condition. It’s possible to do in vitro fertilization (IVF) with
genetic testing to make sure you don’t pass Huntington’s
disease on to your future children.

Outlook / Prognosis
How does Huntington’s disease progress?
Huntington’s disease is a progressive condition. This means
it slowly gets worse over time. The way the condition
progresses varies for each person, but may include:

Early stage: Symptoms are mild. You might feel moody

or clumsy and struggle with complex thinking. You may
also have small, uncontrollable movements, but
typically, you can continue your everyday activities.

Middle stage: Physical and mental changes make

working, driving and household chores very diYcult. You
may have trouble swallowing, which can make speaking
and eating meals challenging but not impossible. Your
balance may be off, increasing your risk of falling. You
can still manage your personal care like bathing and
getting dressed.

End stage: Completing daily tasks is hard to do on your

own. Most people aren’t able to get out of bed without
help. You’ll need around-the-clock care during this
stage, especially to eat, bathe and monitor your health
and well-being.

Is there a cure for Huntington’s disease?

There’s no cure for Huntington’s disease. However, clinical
trials (tests in people) are ongoing to learn more about the
condition and how newer treatments can help.

What is the life expectancy for Huntington’s disease?

The average lifespan after a Huntington’s disease diagnosis

is 10 to 30 years.

Is Huntington’s disease fatal?

Huntington’s disease itself isn’t fatal. The condition makes

everyday activities more diYcult to do over time. How fast it
progresses varies from person to person. But you can die
from its complications, such as infections
like pneumonia or injuries related to falls.

Living With
How do I take care of myself?
You can take several steps to have the best possible quality
of life as Huntington’s disease progresses. Here are some
suggestions:

Get regular exercise: Research shows exercise helps

you feel better overall.

Eat healthy foods: Your healthcare provider might

recommend changes to your nutrition intake.
Involuntary movements can burn up to 5,000 calories a
day.

Drink plenty of water: Dehydration is a risk when you

have trouble swallowing. Your healthcare provider might
recommend that you take steps to stay hydrated.

Find a support group: Ask your healthcare provider for

community resources where you can connect with
others.

Research care services: At some point, you’ll need a

high level of care from either home care services or
a nursing home.

Appoint a trusted advisor: As the condition progresses,

you’ll have to pass Unancial duties and decision-making
on to someone else. This is an important and diYcult
decision to make. Make sure you organize your
expectations before your symptoms make decision-
making diYcult.

Remember, although you can’t prevent Huntington’s disease,

you can plan for it. Symptoms take years to worsen. That
gives you time to Und healthcare providers you trust and get
the support you need for the future. If you or someone in
your family has Huntington’s disease, talk with a genetic
counselor about what you need to know.

What questions should I ask my healthcare

provider?
What’s my prognosis?

What type of treatment do you recommend?

What side effects from treatment should I look for?

How do I prevent complications?

How should I prepare for end-stage Huntington’s

disease?

Do you recommend genetic testing for others in my

family?

A note from Cleveland Clinic

Huntington’s disease makes it harder for you to take care of

yourself over time. It can be extremely diYcult to learn you
or a loved one has this condition. Since symptoms take
years to progress, you have time to prepare for full-time
care and assistance. While you need to make important
long-term decisions about your health, you don’t need to
rush into these decisions that can affect your future.
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It can be easy to give up hope after learning about how this
condition can affect you later on, but you’re not alone. Many