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The Huntington's Disease Society of America provides support and research to help people with the disease and their support system.

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Genentech/Roche Announces US & Canadian Locations of Observational Natural History Study 11.10.18 BLOG: This Week in HD Research 11.08.18 HDSA Awards Five HD Human Biology Project Fellowships for 2018 10.23.18 FAQs: Upcoming Genentech/Roche Studies 10.17.18 HDBuzz: Kids Get Huntington's Disease Too 10.03.18 RESEARCH WEBINAR: Update from Roche/Genentech on GENERATION-HD1 & RG6042 09.26.18

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An ongoing study by the National Institute of Neurological Disorders and Stroke is trying to figure out what proteins affect the huntintin gene that causes the signaling to be messed up. They want to know how changes in development can make the onset of the disease less severe.

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National Institute of Neurological Disorders and Stroke

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Huntington’s disease (HD) is an inherited disorder that causes nerve cells (neurons) in parts of the brain to gradually break down and die. The disease attacks areas of the brain that help to control voluntary (intentional) movement, as well as other areas.

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The disease is passed down in an autosomal dominant pattern. If a person has it, usually it was inherited from one of their parents who is also affected. It is very rare to have Huntington's without a parent also having the disease.

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Description

Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition).

Adult-onset Huntington disease, the most common form of this disorder, usually appears in a person's thirties or forties. Early signs and symptoms can include irritability, depression, small involuntary movements, poor coordination, and trouble learning new information or making decisions. Many people with Huntington disease develop involuntary jerking or twitching movements known as chorea. As the disease progresses, these movements become more pronounced. Affected individuals may have trouble walking, speaking, and swallowing. People with this disorder also experience changes in personality and a decline in thinking and reasoning abilities. Individuals with the adult-onset form of Huntington disease usually live about 15 to 20 years after signs and symptoms begin.

A less common form of Huntington disease known as the juvenile form begins in childhood or adolescence. It also involves movement problems and mental and emotional changes. Additional signs of the juvenile form include slow movements, clumsiness, frequent falling, rigidity, slurred speech, and drooling. School performance declines as thinking and reasoning abilities become impaired. Seizures occur in 30 percent to 50 percent of children with this condition. Juvenile Huntington disease tends to progress more quickly than the adult-onset form; affected individuals usually live 10 to 15 years after signs and symptoms appear.

Frequency

Huntington disease affects an estimated 3 to 7 per 100,000 people of European ancestry. The disorder appears to be less common in some other populations, including people of Japanese, Chinese, and African descent.

Causes

Mutations in the gene cause Huntington disease. The HTT gene provides instructions for making a protein called huntingtin. Although the function of this protein is unclear, it appears to play an important role in nerve cells (neurons) in the brain.

The HTT mutation that causes Huntington disease involves a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated 10 to 35 times within the gene. In people with Huntington disease, the CAG segment is repeated 36 to more than 120 times. People with 36 to 39 CAG repeats may or may not develop the signs and symptoms of Huntington disease, while people with 40 or more repeats almost always develop the disorder.

An increase in the size of the CAG segment leads to the production of an abnormally long version of the huntingtin protein. The elongated protein is cut into smaller, toxic fragments that bind together and accumulate in neurons, disrupting the normal functions of these cells. The dysfunction and eventual death of neurons in certain areas of the brain underlie the signs and symptoms of Huntington disease.

Inheritance

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent. In rare cases, an individual with Huntington disease does not have a parent with the disorder.

As the altered gene is passed from one generation to the next, the size of the CAG trinucleotide repeat often increases in size. A larger number of repeats is usually associated with an earlier onset of signs and symptoms. This phenomenon is called anticipation. People with the adult-onset form of Huntington disease typically have 40 to 50 CAG repeats in the HTT gene, while people with the juvenile form of the disorder tend to have more than 60 CAG repeats.

Individuals who have 27 to 35 CAG repeats in the HTT gene do not develop Huntington disease, but they are at risk of having children who will develop the disorder. As the gene is passed from parent to child, the size of the CAG trinucleotide repeat may lengthen into the range associated with Huntington disease (36 repeats or more).

Other Names for This Condition

Huntington chorea

Huntington chronic progressive hereditary chorea

Huntington's chorea

Huntington's disease

Additional Information & Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Research Studies from ClinicalTrials.gov

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

Bates GP. History of genetic disease: the molecular genetics of Huntington disease - a history. Nat Rev Genet. 2005 Oct;6(10):766-73. doi: 10.1038/nrg1686. Review. Citation on PubMed

Caron NS, Wright GEB, Hayden MR. Huntington Disease. 1998 Oct 23 [updated 2020 Jun 11]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from http://www.ncbi.nlm.nih.gov/books/NBK1305/ Citation on PubMed

Gonzalez-Alegre P, Afifi AK. Clinical characteristics of childhood-onset (juvenile) Huntington disease: report of 12 patients and review of the literature. J Child Neurol. 2006 Mar;21(3):223-9. Citation on PubMed

Imarisio S, Carmichael J, Korolchuk V, Chen CW, Saiki S, Rose C, Krishna G, Davies JE, Ttofi E, Underwood BR, Rubinsztein DC. Huntington's disease: from pathology and genetics to potential therapies. Biochem J. 2008 Jun 1;412(2):191-209. doi: 10.1042/BJ20071619. Review. Citation on PubMed

Jones L, Hughes A. Pathogenic mechanisms in Huntington's disease. Int Rev Neurobiol. 2011;98:373-418. doi: 10.1016/B978-0-12-381328-2.00015-8. Review. Citation on PubMed

Kent A. Huntington's disease. Nurs Stand. 2004 Apr 21-27;18(32):45-51; quiz 52-3. Review. Citation on PubMed

Maiuri T, Mocle AJ, Hung CL, Xia J, van Roon-Mom WM, Truant R. Huntingtin is a scaffolding protein in the ATM oxidative DNA damage response complex. Hum Mol Genet. 2017 Jan 15;26(2):395-406. doi: 10.1093/hmg/ddw395. Citation on PubMed

Sturrock A, Leavitt BR. The clinical and genetic features of Huntington disease. J Geriatr Psychiatry Neurol. 2010 Dec;23(4):243-59. doi: 10.1177/0891988710383573. Epub 2010 Oct 5. Review. Citation on PubMed

Tost H, Wendt CS, Schmitt A, Heinz A, Braus DF. Huntington's disease: phenomenological diversity of a neuropsychiatric condition that challenges traditional concepts in neurology and psychiatry. Am J Psychiatry. 2004 Jan;161(1):28-34. Citation on PubMed

Walker FO. Huntington's disease. Lancet. 2007 Jan 20;369(9557):218-28. Review. Citation on PubMed

Young AB. Huntingtin in health and disease. J Clin Invest. 2003 Feb;111(3):299-302. Review. Citation on PubMed or Free article on PubMed Central

MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. MedlinePlus also links to health information from non-government Web sites. See our disclaimer about external links and our quality guidelines.

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.

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To use the sharing features on this page, please enable JavaScript. Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition). Adult-onset Huntington disease, the most common form of this disorder, usually appears in a person's thirties or forties.

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Huntington's Disease (HD) is a genetic disorder effecting the ability to think and regulate emotions.

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To use the sharing features on this page, please enable JavaScript.

Description

Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition).

Adult-onset Huntington disease, the most common form of this disorder, usually appears in a person's thirties or forties. Early signs and symptoms can include irritability, depression, small involuntary movements, poor coordination, and trouble learning new information or making decisions. Many people with Huntington disease develop involuntary jerking or twitching movements known as chorea. As the disease progresses, these movements become more pronounced. Affected individuals may have trouble walking, speaking, and swallowing. People with this disorder also experience changes in personality and a decline in thinking and reasoning abilities. Individuals with the adult-onset form of Huntington disease usually live about 15 to 20 years after signs and symptoms begin.

A less common form of Huntington disease known as the juvenile form begins in childhood or adolescence. It also involves movement problems and mental and emotional changes. Additional signs of the juvenile form include slow movements, clumsiness, frequent falling, rigidity, slurred speech, and drooling. School performance declines as thinking and reasoning abilities become impaired. Seizures occur in 30 percent to 50 percent of children with this condition. Juvenile Huntington disease tends to progress more quickly than the adult-onset form; affected individuals usually live 10 to 15 years after signs and symptoms appear.

Frequency

Huntington disease affects an estimated 3 to 7 per 100,000 people of European ancestry. The disorder appears to be less common in some other populations, including people of Japanese, Chinese, and African descent.

Causes

Mutations in the gene cause Huntington disease. The HTT gene provides instructions for making a protein called huntingtin. Although the function of this protein is unclear, it appears to play an important role in nerve cells (neurons) in the brain.

The HTT mutation that causes Huntington disease involves a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated 10 to 35 times within the gene. In people with Huntington disease, the CAG segment is repeated 36 to more than 120 times. People with 36 to 39 CAG repeats may or may not develop the signs and symptoms of Huntington disease, while people with 40 or more repeats almost always develop the disorder.

An increase in the size of the CAG segment leads to the production of an abnormally long version of the huntingtin protein. The elongated protein is cut into smaller, toxic fragments that bind together and accumulate in neurons, disrupting the normal functions of these cells. The dysfunction and eventual death of neurons in certain areas of the brain underlie the signs and symptoms of Huntington disease.

Inheritance

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent. In rare cases, an individual with Huntington disease does not have a parent with the disorder.

As the altered gene is passed from one generation to the next, the size of the CAG trinucleotide repeat often increases in size. A larger number of repeats is usually associated with an earlier onset of signs and symptoms. This phenomenon is called anticipation. People with the adult-onset form of Huntington disease typically have 40 to 50 CAG repeats in the HTT gene, while people with the juvenile form of the disorder tend to have more than 60 CAG repeats.

Individuals who have 27 to 35 CAG repeats in the HTT gene do not develop Huntington disease, but they are at risk of having children who will develop the disorder. As the gene is passed from parent to child, the size of the CAG trinucleotide repeat may lengthen into the range associated with Huntington disease (36 repeats or more).

Other Names for This Condition

Huntington chorea

Huntington chronic progressive hereditary chorea

Huntington's chorea

Huntington's disease

Additional Information & Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Research Studies from ClinicalTrials.gov

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

Bates GP. History of genetic disease: the molecular genetics of Huntington disease - a history. Nat Rev Genet. 2005 Oct;6(10):766-73. doi: 10.1038/nrg1686. Review. Citation on PubMed

Caron NS, Wright GEB, Hayden MR. Huntington Disease. 1998 Oct 23 [updated 2020 Jun 11]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from http://www.ncbi.nlm.nih.gov/books/NBK1305/ Citation on PubMed

Gonzalez-Alegre P, Afifi AK. Clinical characteristics of childhood-onset (juvenile) Huntington disease: report of 12 patients and review of the literature. J Child Neurol. 2006 Mar;21(3):223-9. Citation on PubMed

Imarisio S, Carmichael J, Korolchuk V, Chen CW, Saiki S, Rose C, Krishna G, Davies JE, Ttofi E, Underwood BR, Rubinsztein DC. Huntington's disease: from pathology and genetics to potential therapies. Biochem J. 2008 Jun 1;412(2):191-209. doi: 10.1042/BJ20071619. Review. Citation on PubMed

Jones L, Hughes A. Pathogenic mechanisms in Huntington's disease. Int Rev Neurobiol. 2011;98:373-418. doi: 10.1016/B978-0-12-381328-2.00015-8. Review. Citation on PubMed

Kent A. Huntington's disease. Nurs Stand. 2004 Apr 21-27;18(32):45-51; quiz 52-3. Review. Citation on PubMed

Maiuri T, Mocle AJ, Hung CL, Xia J, van Roon-Mom WM, Truant R. Huntingtin is a scaffolding protein in the ATM oxidative DNA damage response complex. Hum Mol Genet. 2017 Jan 15;26(2):395-406. doi: 10.1093/hmg/ddw395. Citation on PubMed

Sturrock A, Leavitt BR. The clinical and genetic features of Huntington disease. J Geriatr Psychiatry Neurol. 2010 Dec;23(4):243-59. doi: 10.1177/0891988710383573. Epub 2010 Oct 5. Review. Citation on PubMed

Tost H, Wendt CS, Schmitt A, Heinz A, Braus DF. Huntington's disease: phenomenological diversity of a neuropsychiatric condition that challenges traditional concepts in neurology and psychiatry. Am J Psychiatry. 2004 Jan;161(1):28-34. Citation on PubMed

Walker FO. Huntington's disease. Lancet. 2007 Jan 20;369(9557):218-28. Review. Citation on PubMed

Young AB. Huntingtin in health and disease. J Clin Invest. 2003 Feb;111(3):299-302. Review. Citation on PubMed or Free article on PubMed Central

MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. MedlinePlus also links to health information from non-government Web sites. See our disclaimer about external links and our quality guidelines.

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.

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To use the sharing features on this page, please enable JavaScript. Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition). Adult-onset Huntington disease, the most common form of this disorder, usually appears in a person's thirties or forties.

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Other Interesting Photos- Pedigree of Huntington's Disease

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Other Interesting Photos- Pedigree of Huntington's Disease

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There is no specific cure for the disease, but therapy and specific drugs such as Lexapro and Prozac can help cure some symptoms.

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Diagnosis

A preliminary diagnosis of Huntington's disease is based primarily on your answers to questions, a general physical exam, a review of your family medical history, and neurological and psychiatric examinations.

Neurological examination

The neurologist will ask you questions and conduct 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 may also perform standardized tests to check your:

Psychiatric evaluation

You'll likely be referred to a psychiatrist for an examination to 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

Your provider may order brain-imaging tests for assessing the structure or function of the brain. The imaging technologies 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 can also be used to rule out other conditions that may be causing symptoms.

Genetic counseling and testing

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

This test can confirm the diagnosis. It may also be valuable 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 will explain the benefits and drawbacks of learning test results. The genetic counselor can also 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 medications can lessen some symptoms of movement and psychiatric disorders. And multiple interventions can help a person adapt to changes in abilities for a certain amount of time.

Medications will likely evolve over the course of the disease, depending on overall treatment goals. Also, drugs that treat some symptoms may result in side effects that worsen other symptoms. Treatment goals will be regularly reviewed and updated.

Medications for movement disorders

Drugs to treat movement disorders include the following:

Drugs to control movement include tetrabenazine (Xenazine) and deutetrabenazine (Austedo), which have been specifically approved by the Food and Drug Administration to suppress the involuntary jerking and writhing movements (chorea) associated with Huntington's disease. These drugs don't have any effect on the progression of the disease, however. Possible side effects include drowsiness, restlessness, and the risk of worsening or triggering depression or other psychiatric conditions.

Antipsychotic drugs, such as haloperidol and fluphenazine, have a side effect of suppressing movements. Therefore, they may be beneficial in treating chorea. However, these drugs may worsen involuntary contractions (dystonia), restlessness and drowsiness.

Other drugs, such as olanzapine (Zyprexa) and aripiprazole (Abilify), may have fewer side effects but still should be used with caution, as they may also worsen symptoms.

Other medications that may help suppress chorea include amantadine (Gocovri, Osmolex ER), levetiracetam (Keppra, Elepsia XR, Spritam) and clonazepam (Klonopin). However, side effects may limit their use.

Medications for psychiatric disorders

Medications to treat psychiatric disorders will vary depending on the disorders and symptoms. Possible treatments include the following:

Antidepressants include such drugs as citalopram (Celexa), escitalopram (Lexapro), fluoxetine (Prozac) and sertraline (Zoloft). These drugs may also have some effect on treating obsessive-compulsive disorder. Side effects may include nausea, diarrhea, drowsiness and low blood pressure.

Antipsychotic drugs such as quetiapine (Seroquel) and olanzapine (Zyprexa) may suppress violent outbursts, agitation, and other symptoms of mood disorders or psychosis. However, these drugs may cause different movement disorders themselves.

Mood-stabilizing drugs that can help prevent the highs and lows associated with bipolar disorder include anticonvulsants, 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 problems, develop coping strategies, manage expectations during progression of the disease and help family members communicate with each other.

Speech therapy

Huntington's disease can significantly impair 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 - such as a board covered with pictures of everyday items and activities. Speech therapists can also address difficulties with muscles used in eating and swallowing.

Physical therapy

A physical therapist can teach you appropriate 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 appropriate posture and the use of supports to improve posture may help lessen the severity of some movement problems.

When the use of a walker or wheelchair is required, the physical therapist can provide instruction on appropriate use of the device and posture. Also, exercise regimens can be adapted to suit the new level of mobility.

Occupational therapy

An occupational therapist can assist the person with Huntington's disease, family members and caregivers on the use of assistive devices that improve functional abilities. 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

Lifestyle and home remedies

Managing Huntington's disease affects the person with the disorder, family members and other in-home caregivers. As the disease progresses, the person will become more dependent on caregivers. Several issues will need to be addressed, and the ways to cope with them will change over time.

Eating and nutrition

Factors regarding eating and nutrition include the following:

Difficulty maintaining a healthy body weight. This may be caused by difficulty eating, higher caloric needs due to physical exertion or unknown metabolic problems. To get adequate nutrition, you may need to eat more than three meals a day or use dietary supplements.

Difficulty with chewing, swallowing and fine motor skills. These problems 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 will need assistance with eating and drinking.

Managing cognitive and psychiatric disorders

Family and caregivers can help create an environment that may help a person with Huntington's disease avoid stressors and manage cognitive and behavioral challenges. These strategies include:

Using calendars and schedules to help keep a regular routine

Initiating tasks with reminders or assistance

Prioritizing or organizing work or activities

Breaking down tasks into manageable steps

Creating an environment that is as calm, simple and structured as possible

Identifying and avoiding stressors that can trigger outbursts, irritability, depression or other problems

For school-age children or adolescents, consulting with school staff to develop an appropriate individual education plan

Providing opportunities 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 with the challenges of the disease.

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, 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

Because Huntington's disease causes the progressive loss of function and death, it's important to anticipate care that will be needed in the advanced stages of the disease and near the end of life. Early discussions about this type of care enable the person with Huntington's disease to be engaged in these decisions and to share what they want from their care.

Creating legal documents that define end-of-life care can be beneficial to everyone. They empower the person with the disease, and they may help family members avoid conflict late in the disease progression. Your provider can offer advice on the benefits and drawbacks of care options at a time when all choices can be carefully considered.

Matters that may need to be addressed include:

Care facilities. Care in the advanced stages of the disease will likely require in-home nursing care or care in an assisted living facility or nursing home.

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 indicate whether or not the person wants life-sustaining interventions or aggressive treatment of an infection.

Advance directives. These legal documents enable you to identify 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 signs or symptoms associated with Huntington's disease, you'll likely be referred to a neurologist after an initial visit to your provider.

A review of your symptoms, mental state, medical history and family medical history can all be important in the clinical assessment of a potential neurological disorder.

What you can do

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

Signs or symptoms - or any changes from what is normal for you - that may be causing concern

Recent changes or stresses in your life

All medications - including drugs available without a prescription and dietary supplements - and doses you take

Family history of Huntington's disease or other disorders that may cause movement disorders or psychiatric conditions

You may want a family member or friend to accompany 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

Your provider is likely to ask you a number of questions, including the following:

When did you begin experiencing symptoms?

Have your symptoms been continuous or intermittent?

Has anyone in your family ever been diagnosed with Huntington's disease?

Has anyone in your family been diagnosed with another movement disorder or psychiatric disorder?

Are you having trouble performing 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?

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A preliminary diagnosis of Huntington's disease is based primarily on your answers to questions, a general physical exam, a review of your family medical history, and neurological and psychiatric examinations.

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- Tics
- Personality changes
- Uncontrollable muscle movements
- Memory loss
- Jerking of muscles
- Difficulty speaking
- Fidgeting
- Mood swings
- Hallucinations

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National Organization for Rare Disorders

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Disease Overview

Huntington's disease is a genetic, progressive, neurodegenerative disorder characterized by the gradual development of involuntary muscle movements affecting the hands, feet, face, and trunk and progressive deterioration of cognitive processes and memory (dementia). Neurologic movement abnormalities may include uncontrolled, irregular, rapid, jerky movements (chorea) and athetosis, a condition characterized by relatively slow, writhing involuntary movements. Dementia is typically associated with progressive disorientation and confusion, personality disintegration, impairment of memory control, restlessness, agitation, and other symptoms and findings. In individuals with the disorder, disease duration may range from approximately 10 years up to 25 years or more. Life-threatening complications may result from pneumonia or other infections, injuries related to falls, or other associated developments.

Huntington's disease is transmitted as an autosomal dominant trait. The disease results from changes (mutations) of a gene known as "huntington" located on the short arm (p) of chromosome 4 (4p16.3). In those with the disorder, the huntington gene contains errors in the coded "building blocks" (nucleotide bases) that make up the gene's instructions. The gene contains abnormally long repeats of coded instructions consisting of the basic chemicals cytosine, adenine, and guanine (CAG trinucleotide repeat expansion). The length of the expanded repeats may affect the age at symptom onset. The specific symptoms and physical features associated with Huntington's disease result from degeneration of nerve cells (neurons) within certain areas of the brain (e.g., basal ganglia, cerebral cortex).

Synonyms

Chronic Progressive Chorea

Degenerative Chorea

HD

Hereditary Chorea

Hereditary Chronic Progressive Chorea

Huntington's Chorea

VEOHD

Very Early Onset Huntington's Disease

Woody Guthrie's Disease

Signs & Symptoms

Huntington's disease is characterized by rapid uncontrollable muscle movements such as tics or muscle jerks (choreiform movements or chorea). This disorder causes a loss of coordination and personality changes. As the disease progresses, the ability to speak may be impaired, memory may fade, and the involuntary jerky muscle movements (chorea) become more severe.

Huntington's disease runs a ten to 25 year progressive course. As the disorder progresses, the chorea may subside and there may be an absence of movement (akinesia). Dementia gradually develops. Patients with Huntington's disease are at high risk of developing pneumonia as a result of being bedridden and undernourished.

Causes

Huntington's disease is inherited as an autosomal dominant trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.

In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.

Huntington's disease is caused by changes (mutations) of a gene that is located on the short arm (p) of chromosome 4 (4p16.3). Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as "p" and a long arm identified by the letter "q." Chromosomes are further subdivided into bands that are numbered.

Known as huntingtin, the gene controls the production of a protein found in nerve cells (neurons) throughout the brain. However, the specific function of the huntingtin protein is not known. In individuals with the disorder, the huntingtin gene contains errors in the coded "building blocks" that make up its specific genetic instructions. The instructions within every gene consist of different arrangements of four basic chemicals (nucleotide bases) called adenine (A), cytosine (C), guanine (G), and thymine (T). In those with Huntington's Disease, the huntingtin gene contains abnormally long repeats of coded instructions consisting of cytosine, adenine, and guanine (CAG trinucleotide repeat expansion). For example, individuals with the disease have over 35 CAG repeats within the huntingtin gene, with most having more than 39. However, individuals without the disorder tend to have about 20 repeats in the gene. Expanded CAG repeats are unstable and may expand further over time and with successive generations. This is thought to be responsible for genetic anticipation, a phenomenon in which an individual with Huntington's disease may have symptom onset at a significantly earlier age than his or her affected parent. In addition, some researchers suggest that expanded CAG repeats of the huntingtin gene may become more unstable when the gene is transmitted from the father.

The specific symptoms associated with Huntington's disease are caused by degenerative changes of nerve cells (neurons) within certain regions of the brain, including the basal ganglia and cerebral cortex. The basal ganglia are specialized nerve cells deep within the brain that play a role in regulating movements. The cerebral cortex, the outer region of the brain, is responsible for conscious thought and movement.

Affected populations

About 30,000 people in the United States have Huntington's disease and another 200,000 are at risk of developing the condition. Symptoms commonly develop between ages 30 and 50. The disease progresses slowly and a person may live for another 15-20 years after the onset of symptoms.

Disorders with Similar Symptoms

Symptoms of the following disorders can be similar to those of Huntington's disease. Comparisons may be useful for a differential diagnosis:

Hallervorden-Spatz disease is a rare progressive disorder that affects muscle movement. It is associated with the degeneration of the nervous system. Hallervorden-Spatz Disease is characterized by uncontrolled muscle movements (dystonia), muscular rigidity, and the loss of cognitive abilities (dementia). The symptoms of this disease typically begin during childhood, although occasionally the disease begins in adulthood. Approximately one-third of people with Hallervorden-Spatz disease experience sudden jerky muscle movements. Other less frequent symptoms may include joint pain (dysarthria), mental retardation, facial grimacing, impaired speech (dysphasia), and impaired vision. (For more information on this disorder, choose "Hallervorden-Spatz" as your search term in the Rare Disease Database.)

Multiple system atrophy (MSA) is a group of rare inherited disorders that are characterized by the progressive degeneration of the cerebellar cortex and other brain tissue. Several different types of multiple system atrophy have been identified, the symptoms of which vary widely depending on the MSA type present. Generally, these disorders are characterized by an impaired ability to coordinate muscle movement, tremors, involuntary jerky muscle movements, impaired speech (dysphasia), loss of cognitive abilities, and mental deterioration. A wide variety in severity and age of onset may be found in all types of MSA. (For more information on the disorders which make up MSA, choose "Multiple System Atrophy" as your search term in the Rare Disease Database.)

Sydenham's chorea is a disorder of the nervous system that begins abruptly after a streptococcal infection such as strep throat or rheumatic fever. This disorder usually affects young children and adolescents. Sydenham's chorea is characterized by rapid, involuntary, non-repetitive muscle movements that may gradually become more severe and frequent. The muscles of the arms and legs are usually most affected. Speech may also be impaired. Other common symptoms may include clumsiness and facial grimacing. Chorea-like muscle movements tend to disappear with sleep. This disorder usually subsides in 3 to 6 months with no permanent neurological or muscle damage. (For more information on this disorder, choose "Sydenham" as your search term in the Rare Disease Database.)

Wilson's disease is a rare genetic disorder characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes. The disease is progressive and, if left untreated, it may cause liver (hepatic) disease, central nervous system dysfunction, and death. Early diagnosis and treatment may prevent serious long-term disability and life threatening complications. Treatment is aimed at reducing the amount of copper that has accumulated in the body and maintaining normal copper levels thereafter. (For more information on this disorder, choose "Wilson" as your search term in the Rare Disease Database.)

Tourette syndrome is a neurological movement disorder that usually first appears between the ages of two and 16 years. Initial symptoms are often rapid eye blinking or facial grimaces, but many parts of the body may be affected. Symptoms wax and wane, with new symptoms replacing old ones that have disappeared. Tourette syndrome is not progressive nor degenerative, and patients live a normal life span. Muscle and vocal tics characterize this disorder. (For more information on this disorder, choose "Tourette" as your search term in the Rare Disease Database.)

Dentatorubral-Pallidoluysian atrophy (DRPLA) is another spino-cerebellar degenerative disease the cause of which is linked to an abnormally high number of nucleotide repeats in the patient's DNA. The characteristics of DRPLA include shock-like epileptic contractions (myoclonic epilepsy) usually limited to the upper extremities of one side of the body (pallidoluysian); slow, continuous, sinuous motion of the arms and/or hands (choreoathetosis); uncontrollable, irregular, uncoordinated, muscle actions (ataxia); and dementia. Age of onset is usually in the patient's twenties, and inheritance is autosomal dominant. The disorder has been traced to a gene located at 16q24.3.

Huntington's disease-like 2 (HDL-2) is an autosomal dominant disorder remarkably like Huntington's disease but characterized by a different trinucleotide repeat. Onset typically occurs in the fourth decade, with involuntary movements and abnormalities of voluntary movements, as well as dementia. This disorder was described based on the experiences of one family and, except for lower frequency of eye-movement and the absence of seizures, it is similar to juvenile-onset Huntington's disease. The gene has been traced to a site at 16q24.3 that is known as the JPH3 gene or junctophilin gene.

Diagnosis

The diagnosis of Huntington's disease may be confirmed by a thorough clinical evaluation, detailed patient history, and a variety of specialized tests. Specialized x-ray studies such as computerized tomography (CT) scanning, magnetic resonance imaging (MRI), or electroencephalography (EEG) may help confirm the diagnosis of Huntington's Disease. During CT scanning, a computer and x-rays are used to create a file showing cross-sectional images of the brain. During MRI, a magnetic field and radio waves are used to create cross-sectional images of the brain. During an EEG, an instrument records electrical activity of the brain. Neuropsychological and/or genetic tests are also used to aid the diagnosis of Huntington's disease.

Standard Therapies
Treatment
In August 2008, the Food and Drug Administration (FDA) approved tetrabenazine (Xenazine) for the treatment of the repetitive, involuntary movements (chorea. associated with Huntington's disease. This is the first and only FDA-approved treatment specifically for any symptom of HD. Prestwick Pharmaceuticals, Inc., of Washington, DC, is the U.S. manufacturer of tetrabenezine. The drug has been available in Europe for several years.

Other treatment for Huntington's disease is symptomatic and supportive. There are some treatments that may alleviate various symptoms temporarily. Neuroleptic medication such as haloperidon can partially suppress the involuntary movement, especially in the early stages. Other medication can often help depression and other emotional symptoms. Special high calorie food preparations may help an affected individual maintain weight and avoid choking during the later stages of Huntington's disease.

Genetic counseling will be of benefit for affected individuals and their families. Family members of affected individuals should also receive clinical evaluations to detect any symptoms and physical characteristics that may be potentially associated with Huntington's disease.

Clinical Trials and Studies

Medivation is conducting the Huntington's disease trial in collaboration with the Huntington Study Group (HSG), a network of more than 250 experienced clinical trial investigators, coordinators and consultants from more than 60 academic and research institutions throughout the United States, Canada, Europe and Australia.

The Phase 2 portion will be conducted at approximately 17 HSG sites in the United States and Europe and is being led by principal investigator Karl Kieburtz, M.D., M.P.H., professor of neurology at the University of Rochester and director of the HSG Clinical Trials Coordination Center.

For more information please contact

Medivation, Inc.

Patrick Machado, Chief Financial of Officer Medivation, Inc.,

+1-415-829-4101; or

Jani Bergan of WeissComm Partners, +1-415-946-1064,

http://www.medivation.com

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (860) 411-1010

Email: [email protected]

For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

In 2006, the U.S. Food and Drug Administration (FDA) granted orphan drug status for the drug candidate, HD-02. This designation followed successful phase I and phase II trials in which HD-02 seemed to reduce the serum 8OH2'dG, a chemical that is found in high levels in patients with Huntington's disease. It also appeared to elevate brain levels of creatine. HD-02 is produced by Avicena. For information, contact the company at:

The Avicena Group

228 Hamilton Ave., 3rd Floor

Palo Alto, CA 94301

Phone: (415) 397-2880

Fax: (415) 397-2898

Email: [email protected]

The drug ethyl-EPA (Miraxion) is currently (2006) in a phase III trial co-sponsored by its manufacturer, Amarin Neuroscience. Miraxion has FDA "fast-track" status as a potential treatment for the signs and symptoms of Huntington's disease. Amarin is currently conducting two phase III clinical trials, one in the United States and one in Europe, involving Miraxion. The one in the U.S. is being run by the Huntington's Study Group (HSG), based at the University of Rochester. For information, call the Huntington Study Group at (800) 487-7671 or go to www.amarincorp.com.

A study of the effects of music therapy on the psychological, somatic, and social symptoms of patients with Huntington's disease is currently (2006) in a phase I trial at the University of Rochester. This study was launched in 2005.

A May 2004 report from the Department of Medical Genetics at Cambridge University maintains that rapamycin, a drug used to prevent organ rejection after transplants, appears to slow the progress of Huntington's disease. The report details studies with animals, but studies involving rapamycin and humans now are planned.

Researchers are studying mice with the HD gene and the use of a type of bile acid called TUDCA in possibly preventing the death of brain neurons. However, more research is needed before this approach can be tested in humans.

The National Society of Genetic Counselors has suggested the following classification of genetic test results may be predictive of Huntington's Disease: tests showing fewer than 26 repeats of the gene suggests that a person will not get Huntington's Disease; testing showing between 27 and 35 repeats of the gene suggests that a person is unlikely to develop Huntington Disease, but his/her offspring may be at risk; those who test between 36 and 39 repeats of the gene appear to be positive for Huntington's Disease but with reduced penetrance; and over 40 repeats of the gene are considered positive for Huntington's Disease.

The FDA Office of Orphan Products Development is sponsoring a randomized, double-blind and placebo-controlled Phase I and Phase II clinical trial of the antibiotic minocycline to determine whether it is safe and tolerable in patients with Huntington's disease and whether it reduces symptoms of the disease. This trial is being conducted at the Massachusetts General Hospital in Boston. The principal investigator is Merit E. Cudkowicz, MD. More information may be obtained by contacting:

Dr. Merit E. Cudkowicz

Tel: 617-724-1873

e-mail: [email protected]

Study ID Number: FD-R-1968-01

NLM Identifier: NCT00029874

In 2001, the anti-oxidant Coenzyme Q10 received an orphan drug designation by the FDA. Additional study is needed to determine the safety and effectiveness of this treatment for Huntington disease.

In 2000, the FDA granted ethyl eicosapentaenoate orphan drug status for the treatment of Huntington disease.

Information about current clinical trials related to Huntington disease may be accessed through the Huntington Study Group, a non-profit organization of physicians and other healthcare providers in the United States, Europe, Canada, and Australian. The organization's web site is at: www.Huntington-Study-Group.org.

References

TEXTBOOKS

Rosenblatt A. Huntington Disease. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:537-38.

Beers MH, Berkow R, eds. The Merck Manual, 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999:1464-65.

Berkow R, ed. The Merck Manual-Home Edition.2nd ed. Whitehouse Station, NJ: Merck Research Laboratories; 2003:552, 553-54.

Larson DE, ed. Mayo Clinic Family Health Book. New York, NY: William Morrow and Company, Inc; 1996:477-78.

Jankovic J. Choreas, Athetosis, and Ballism. In: Bennett JC, Plum F. Eds. Cecil Textbook of Medicine. 20th ed. W.B. Saunders Co., Philadelphia, PA; 1996:2048-49.

Fahn S. Huntington Disease. In: Rowland LP. Ed. Merritt's Neurology. 10th ed. Lippincott Williams & Wilkins. Philadelphia, PA. 2000:659-62.

Rosenblatt A, et al, eds. A Physician's Guide to the Management of Huntington's Disease, 2nd ed. Huntington's Disease Society of America, 1999.

REVIEW ARTICLES

Alberch J, Perez-Navarro E, Canals JM. Neurotrophic factors in Huntington's disease. Prog Brain Res. 2004;146:195-229.

DeKosky ST, Marek K. Looking backward to move forward: early detection of neurodegenerative disorders. Science. 2003;302:830-34.

MacDonald ME, Gines S, Gusella JF, et al. Huntington's disease. Neuromolecular Med. 2003;4:7-20.

Margolis RL, Ross CA. Diagnosis of Huntington disease. Clin Chem. 2003;49:1726-32.

Rosser AE, Dunnett SB. Neural transplantation in patients with Huntington's disease. CNS Drugs. 2003;17:853-67.

Hogarth P. Huntington's disease: a decade beyond gene discovery. Curr Neurol Neurosci Rep. 2003;3:279-84.

Hersch SM. Huntington's disease: prospects for neuroprotective therapy 10 years after the discovery of the causative genetic mutation. Cur Opin Neurol. 2003;16:501-06.

Bilney B, Morris ME, Perry A. Effectiveness of physiotherapy, occupational therapy, and speech pathology for people with Huntington's disease: a systematic review. Neurorehabil Neural Repair. 2003;17:12-24.

Ostenfeld T, Svendsen CN. Recent advances in stem neurobiology. Adv Tech Stand Neurosurg. 2003;28:3-89.

Grimbrgen YA, Roos RA. Therapeutic options for Huntington's disease. Curr Opin Investig Drugs. 2003;4:51-54.

Gasser T, Bressman S, Durr A, et al. State of the art review: molecular diagnosis of inherited movement disorders. Movement Disorders Society task for on molecular diagnosis. Mov Disord. 2003;18:3-18.

Emerich DF. Neuroprotective possibilities for Huntington's disease. Expert Opin Biol Ther. 2001;1:467-79.

Burson CM, Markey KR. Genetic counseling issues in predictive genetic testing for familial adult-onset neurologic diseases. Semin Pediatr Neurol. 2001;8:177-86.

Sieradzan KA, Mann DM. The selective vulnerability of nerve cells in Huntington's disease. Neuropathol Appl Neurobiol. 2001;27:1-21.

Hughes RE, Olson JM. Therapeutic opportunities in polyglutamine disease. Nat Med. 2001;7:419-23.

Freeman TB, Hauser RA, Willing AE, et al. transplantation of human fetal striatal tissue in Huntington's disease: rationale for clinical studies. Novartis Found Symp. 2000;231:129-38; discussion 139-47.

Meiser B, Dunn S. Psychological impact of genetic testing for Huntington's disease: an update of the literature. J Neurol Neurosurg Psychiatry. 2000;69:574-78.

Gutekunst CA, Norflus F, Hersch SM. Recent advances in Huntington's disease. Curr Opin Neurol. 2000;13:445-50.

FROM THE INTERNET

McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Huntington Disease; HD. Entry No:143100; Last Update:2/17/2004

NINDS Huntington's Disease Information Page. Reviewed 07-01-2001. 2pp.

www.ninds.nih.gov/halth_and_medical/disorders/huntington.htm

NINDS Huntington's Disease - Hope Through Research. Reviewed July 1, 2001. 19pp.

www.ninds.nih.gov/halth_and_medical/pubs/huntington_disease.htm

MedlinePlus. Huntington's Disease. Last Updated: 26 February 2004. 3pp.

www.nlm.nih.gov/medlineplus/huntingtonsdisease.html

Huntington's Disease: A guide for families. Huntington's Disease Society of America. 1996. 21pp.

www.nyic.com/hdsa/edu/Pubs.pl

What is Huntington's Disease? Huntington's Disease Association. nd. 4pp.

www.had.org.uk/charity/whatishd.html

Programs & Resources

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Huntington's Disease - Symptoms, Causes, Treatment | NORD

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Huntington's disease is a genetic, progressive, neurodegenerative disorder characterized by the gradual development of involuntary muscle movements affecting the hands, feet, face, and trunk and progressive deterioration of cognitive processes and memory (dementia). Neurologic movement abnormalities may include uncontrolled, irregular, rapid, jerky movements (chorea) and athetosis, a condition characterized by relatively slow, writhing involuntary movements.

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How many people does this disorder affect?

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How many people does this disorder affect?

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Huntington's Disease is a rare genetic disorder, which affects about 1 in every 10,00 to 20,000 people.

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Brain, Nerves and Spine

What is Huntington disease?

Huntington disease is a brain disorder in which brain cells, or neurons, in certain areas of your brain start to break down. As the neurons degenerate, the disease can lead to emotional disturbances, loss of intellectual abilities, and uncontrolled movements.

Huntington disease has 2 subtypes:

Adult-onset Huntington disease. This is the most common form of Huntington disease. People typically develop the symptoms in their mid-30s and 40s.

Early-onset Huntington disease. In rare instances, children or adolescents will develop the disease. Children with the disease tend to experience abrupt difficulties with schoolwork and often have symptoms that are quite similar to Parkinson disease.

What causes Huntington disease?

Huntington disease is a genetic disorder. It is passed on from parents to children. If a parent has Huntington disease, the child has a 50% chance of developing it. If the child doesn't develop the disease, he or she won't pass it along to his or her children. For 1% to 3% of people with Huntington disease, no family history of the disorder is ever identified.

What are the symptoms of Huntington disease?

The early symptoms of Huntington disease are often general:

Irritability

Depression

Mood swings

Trouble driving

Trouble learning new things

Forgetting facts

Trouble making decisions

As the disease progresses, the following symptoms become more common:

Trouble feeding oneself

Difficulty swallowing

Strange and uncontrolled movements that are either slow or wild and jerking (chorea)

Loss of memory and judgment

Changes in speech

Personality changes

Disorientation and confusion

Hallucinations, paranoia, and psychosis

In children, the symptoms often include Parkinson disease‒like features such as:

How is Huntington disease diagnosed?

Because many of these symptoms can be caused by other diseases, a detailed physical and neurological exam is usually needed. Not surprisingly, a family history of the disorder is often the biggest clue that you may have Huntington disease.

Special blood tests can help your healthcare provider determine your likelihood of developing Huntington disease. A computed tomography (CT) scan of the head can evaluate the scope and scale of brain cell damage and loss of brain tissue. A magnetic resonance imaging (MRI) scan or a positron emission tomography (PET) scan may also be used.

What are the risk factors for Huntington disease?

If you have the Huntington disease gene, you will develop the disease at some point during your life. The age of onset of Huntington disease varies greatly from person to person, but most people develop it in their 30s or 40s.

Huntington disease is a rare disorder. More than 15,000 Americans currently have the disease, but many more are at risk of developing it.

Huntington's Disease | Generations of Care and Search for a Cure

How is Huntington disease treated?

You can't cure or slow the progression of Huntington disease, but health care providers can offer medications to help with certain symptoms.

Drugs like haloperidol, tetrabenazine, and amantadine are especially helpful for controlling the unusual movements caused by Huntington disease. Haloperidol and tetrabenazine can also help offset hallucinations and delusional thoughts. Depression and suicide are common among those with Huntington disease. Antidepressants and antianxiety medications may be prescribed to treat these symptoms.

Living with Huntington disease

As Huntington disease progresses, you will need constant assistance and supervision because of the debilitating nature of the disease. People usually die from the disease within 15 to 20 years of developing symptoms.

If you have been diagnosed with, or are at risk for Huntington disease, it is critical to maintain your physical fitness as best you can. People who exercise regularly and stay active tend to do better than those who don't.

A number of studies are currently under way to examine possible therapies for Huntington disease. Talk with your health care provider about whether any of these therapies may be helpful to you or a loved one with the disorder.

When should I call my healthcare provider?

If you have Huntington disease, it is important to closely monitor you condition, and contact your healthcare provider if you notice any of the following symptoms:

Increasing difficulty with motor tasks such as walking

Trouble swallowing

Mood changes, such as increasing symptoms of depression or feelings of suicide

Key points

Huntington disease is a genetic brain disorder.

There is no cure at this time.

The goal of treatment is to manage your symptoms so that you can function as long as possible.

If you have Huntington disease, your child has a 50% chance of developing the disease.

Huntington disease affects your emotional, physical, and intellectual abilities.

As the disease progresses, you will need additional assistance and supervision; eventually you will need help 24 hours a day.

Next steps

Tips to help you get the most from a visit to your healthcare provider:

Know the reason for your visit and what you want to happen.

Before your visit, write down questions you want answered.

Bring someone with you to help you ask questions and remember what your provider tells you.

At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you.

Know why a new medicine or treatment is prescribed, and how it will help you. Also know what the side effects are.

Ask if your condition can be treated in other ways.

Know why a test or procedure is recommended and what the results could mean.

Know what to expect if you do not take the medicine or have the test or procedure.

If you have a follow-up appointment, write down the date, time, and purpose for that visit.

Know how you can contact your provider if you have questions.

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Huntington disease is a brain disorder that can lead to emotional disturbances, loss of intellectual abilities, and uncontrolled movements.