Huntington's disease

Diagnosis

A preliminary diagnosis of Huntington's disease is based on your answers to questions, a general physical exam and your family medical history. Neurological tests and an evaluation of your mental health also is done.

Neurological exam

A neurologist asks you questions and conducts relatively simple tests of your:

• Motor symptoms, such as reflexes, muscle strength and balance.
• Sensory symptoms, including sense of touch, vision and hearing.
• Psychiatric symptoms, such as mood and mental status.

Neuropsychological testing

The neurologist also may perform standardized tests to check your:

• Memory.
• Reasoning.
• Mental agility.
• Language skills.
• Spatial reasoning.

If needed, more thorough neuropsychological testing may be done by licensed psychologists.

Mental health evaluation

You'll likely be referred to a psychiatrist who can look for a number of factors that could contribute to your diagnosis, including:

• Emotional state.
• Patterns of behaviors.
• Quality of judgment.
• Coping skills.
• Signs of disordered thinking.
• Evidence of substance abuse.

Brain-imaging and function tests

Brain-imaging tests can provide information on the structure or function of the brain. These tests may include MRI or CT scans that show detailed images of the brain.

These images may reveal changes in the brain in areas affected by Huntington's disease. These changes may not show up early in the course of the disease. These tests also can be used to rule out other conditions that may be causing symptoms.

Genetic counseling and testing

If symptoms strongly suggest Huntington's disease, members of your healthcare team may recommend a genetic test for the nontypical gene.

This test can confirm the diagnosis. The test also may help if there's no known family history of Huntington's disease or if no other family member's diagnosis was confirmed with a genetic test. But the test won't provide information that might help determine a treatment plan.

Before having such a test, the genetic counselor explains the benefits and drawbacks of learning test results. The genetic counselor also can answer questions about the inheritance patterns of Huntington's disease.

Predictive genetic test

A genetic test can be given if you have a family history of the disease but don't have symptoms. This is called predictive testing. The test can't tell you when the disease will begin or what symptoms will appear first.

Some people may have the test because they find not knowing to be more stressful. Others may want to take the test before having children.

Risks may include problems with insurability or future employment and the stresses of facing a fatal disease. In principle, federal laws exist that make it illegal to use genetic testing information to discriminate against people with genetic diseases.

These tests are only performed after consultation with a genetic counselor.

Treatment

No treatments can alter the course of Huntington's disease. But medicines can lessen some symptoms of movement and mental health conditions. And multiple interventions can help a person adapt to changes in abilities for a certain amount of time.

The medicines you take may change over the course of the disease, depending on your overall treatment goals. Also, medicines that treat some symptoms may result in side effects that worsen other symptoms. Treatment goals are regularly reviewed and updated.

Medicines for movement disorders

Medicines to treat movement disorders include:

• Medicines to control movement include tetrabenazine (Xenazine), deutetrabenazine (Austedo) and valbenazine (Ingrezza). They have been approved by the Food and Drug Administration to suppress involuntary jerking and writhing movements, known as chorea. Chorea can happen as a result of Huntington's disease. These medicines don't affect how the disease progresses, however. Possible side effects include drowsiness, restlessness, and the risk of worsening or triggering depression or other psychiatric conditions.
• Antipsychotic medicines, such as haloperidol and fluphenazine, olanzapine (Zyprexa) and aripiprazole (Abilify, Aristada) have a side effect of suppressing movements. Therefore, they may help to treat chorea. However, these medicines may worsen involuntary muscle contractions called dystonia and cause slowness of movements, resembling Parkinson's disease. They also may cause restlessness and drowsiness.
• Other medicines that may help suppress chorea include amantadine (Gocovri), levetiracetam (Keppra, Spritam) and clonazepam (Klonopin). However, mild effectiveness and side effects may limit their use.

Medicines for mental health conditions

Medicines to treat mental health vary depending on the conditions and symptoms. Possible treatments include:

• Antidepressants include citalopram (Celexa), escitalopram (Lexapro), fluoxetine (Prozac) and sertraline (Zoloft). These medicines also may have some effect on obsessive-compulsive disorder symptoms. Side effects may include nausea, diarrhea, drowsiness and low blood pressure.
• Antipsychotic medicines such as quetiapine (Seroquel) and olanzapine (Zyprexa) may suppress violent outbursts, agitation and other symptoms. However, these medicines may cause different movement disorders themselves.
• Mood-stabilizing medicines can help prevent the highs and lows associated with bipolar disorder. They include anti-seizure medicines such as divalproex (Depakote), carbamazepine (Tegretol, Carbatrol, Epitol, others) and lamotrigine (Lamictal).

Psychotherapy

A psychotherapist — a psychiatrist, psychologist or clinical social worker — can provide talk therapy to help with behavioral symptoms. The psychotherapist can help you and your family develop coping strategies, manage expectations as the disease gets worse and help family members communicate.

Speech therapy

Huntington's disease can affect the control of muscles of the mouth and throat that are essential for speech, eating and swallowing. A speech therapist can help improve your ability to speak clearly or teach you to use communication devices. A communication device might be as simple as a board covered with pictures of everyday items and activities. Speech therapists also can address trouble with eating and swallowing.

Physical therapy

A physical therapist can teach you proper and safe exercises that enhance strength, flexibility, balance and coordination. These exercises can help maintain mobility as long as possible and may reduce the risk of falls.

Instruction on posture and the use of supports to improve posture may help lessen some movement symptoms.

When you need a walker or wheelchair, the physical therapist can advise on the proper use of the device and posture. Also, exercises can be adapted for your level of mobility.

Occupational therapy

An occupational therapist can assist you, your family members and caregivers on how to use assistive devices to improve function. These strategies may include:

• Handrails at home.
• Assistive devices for activities such as bathing and dressing.
• Eating and drinking utensils adapted for people with limited fine motor skills.

Clinical trials

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this condition.

Lifestyle and home remedies

Managing Huntington's disease affects the person with the disease, family members and other in-home caregivers. As the disease gets worse, the person becomes more dependent on caregivers. Several issues need to be addressed, and the ways to cope with them changes over time.

Eating and nutrition

Factors regarding eating and nutrition include the following:

• Trouble maintaining a healthy body weight. This may be caused by having trouble eating or by needing more calories due to physical exertion or a metabolic condition. To get enough nutrition, you may need to eat more than three meals a day or use dietary supplements.
• Trouble with chewing, swallowing and fine motor skills. This can limit the amount of food you eat and increase the risk of choking. It may help to remove distractions during a meal and select foods that are easier to eat. Utensils designed for people with limited fine motor skills and covered cups with straws or drinking spouts also can help.

Eventually, a person with Huntington's disease needs help with eating and drinking.

Managing cognitive and mental health conditions

Family and caregivers can help create an environment that may help a person with Huntington's disease avoid things that cause stress. This can help manage cognitive and behavioral symptoms. These strategies include:

• Using calendars and schedules to help keep a regular routine.
• Starting tasks with reminders or assistance.
• Organizing work or activities in order of importance.
• Breaking down tasks into manageable steps.
• Creating an environment that is as calm, simple and structured as possible.
• Looking for and steering away from stressors that can trigger outbursts, irritability, depression or other symptoms.
• For school-age children or teenagers, talking with school staff to develop an individual education plan.
• Providing chances for the person to maintain social interactions and friendships as much as possible.

Coping and support

A number of strategies may help people with Huntington's disease and their families cope.

Support services

Support services for people with Huntington's disease and families include the following:

• Nonprofit agencies, such as the Huntington's Disease Society of America, provide caregiver education. They also can offer referrals to outside services and support groups for people with the disease and caregivers.
• Local and state health or social service agencies may provide daytime care for people with the disease, meal assistance programs or respite for caregivers.

Planning for residential and end-of-life care

Huntington's disease causes a loss of function and eventually death. It's important to plan for care that will be needed in the advanced stages of the disease and near the end of life. Early discussions about care allow the person with Huntington's disease to be engaged and to share what they want from their care.

Creating legal documents that define end-of-life care can be helpful to everyone. They empower the person with the disease, and they may prevent conflict among family members as the disease gets worse. Members of your healthcare team can offer advice on the pluses and minuses of care options.

Matters that may need to be addressed include:

• Care facilities. In-home nursing care or care in an assisted living facility or nursing home is needed during the advanced stages of the disease.
• Hospice care. Hospice services provide care at the end of life that helps a person approach death with as little discomfort as possible. This care also provides support and education to family members to help them understand the process of dying.
• Living wills. Living wills are legal documents that enable a person to spell out care preferences when it isn't possible to make decisions. For example, these directions might say whether or not the person wants life-sustaining interventions or aggressive treatment of an infection.
• Advance directives. These legal documents allow you to choose one or more people to make decisions on your behalf. You may create an advance directive for medical decisions or financial matters.

Preparing for your appointment

If you have any symptoms of Huntington's disease, you'll likely be referred to a neurologist after a visit to your healthcare professional.

A review of your symptoms, mental state, medical history and family medical history can all be important when assessing a potential neurological disorder.

What you can do

Before your appointment, make a list that includes the following:

• Symptoms or any changes from what is usual for you that may be causing concern.
• Recent changes or stresses in your life.
• All medicines, including any available without a prescription and dietary supplements. Include the doses you take.
• Family history of Huntington's disease or other conditions that may cause movement disorders or mental health conditions.

You may want a family member or friend to come with you to your appointment. This person can provide support and offer a different perspective on the effect of symptoms on your functional abilities.

What to expect from your doctor

You're likely to be asked a number of questions, including the following:

• When did you begin experiencing symptoms?
• Have your symptoms been constant or do they occur off and on?
• Has anyone in your family ever been diagnosed with Huntington's disease?
• Has anyone in your family been diagnosed with another movement disorder or mental health condition?
• Are you having trouble completing work, schoolwork or daily tasks?
• Has anyone in your family died young?
• Is anyone in your family in a nursing home?
• Is anyone in your family fidgety or moving all the time?
• Have you noticed a change in your general mood?
• Do you feel sad all of the time?
• Have you ever thought about suicide?