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Huntington Disease has many nicknames such as Huntington chorea, Huntington chronic progressive hereditary chorea, and Huntington's chorea

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A mutation in the HTT gene causes Huntington disease. The HTT gene is responsible for providing instruction for making a protein called huntingtin. The function of this protein is still unclear, but it plays an important role in nerve cells(neurons) in the brain.
The HTT mutation causes Huntington disease involves a DNA segment knowns as a CAG trinucleotide repeat. This DNA segment is made up of a series of three DNA building blocks (Cytosine (C), Adenine (A), Guanine (G) that appears in multiple times in a row. The CAG segment is repeated 10 to 35 times within the gene. People who has Huntington disease, CAG segment is repeated 36 to 120 times. So people with 36 to 39 CAG repeats may or may not develop  the signs and symptoms of Huntington disease, people with 40 or more though almost always develop the disorder.

Increase in the size of the CAG segment leads to the production of an abnormally long version of the huntingtin protein. 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 area of the brain is underlie the sign and symptoms of Huntington disease. Huntington disease affects 3 to 7 per 100,000 of European ancestry. The disorder appears less to Asian descent and African descent.

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This is the repeat of DNA segment made up with Cytosine (C), Adenine (A), and Guanine (G). That causes the Huntington disease to develop.

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Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability. Early signs and symptoms can include irritability, depression, small involuntary movements, poor coordination, and trouble of learning new information or making decisions. Many who has the disorder develop involuntary jerking or twitching movements known as chorea. As the disease progresses, these movements become more prominent. Affected individuals may have trouble walking, speaking, and swallowing. This disorder also changes the person's 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  involves movement problems, mental, and emotional changes. More 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% to 50% of children with this condition.

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There are many ways to diagnose Huntington disease. The most effective way to test for Huntington disease is called the "direct genetic test-counts" which counts the number of CAG repeats in the HD gene, using DNA taken from a blood sample. The presence of 36 or more repeats supports a diagnosis of HD. Another way is a neurological examination, where a neurologist will ask a patient questions and conduct a relatively simple test of three things, motor symptoms such as reflex, muscle strength, and balance. Sensory symptoms, including a sense of touch, vision, and hearing. And psychiatric symptoms, such as mood and mental status. A more modern way is called "brain-imaging", which includes 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.

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There is a process of testing a baby while in the pregnant uterus to determine if the baby has inherited Huntington's disease or not. The can be done two different ways.
One way is the CVS (Chorionic Villus Sampling), which is typically between 10-13 weeks of pregnancy. A piece of developing placentia is removed through a woman's cervix or abdomen using a catheter or needle. Though CVS carries a risk for miscarriage that can vary slightly from center to center but is usually in the range of 1/100 to 1/500.

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Huntington's disease is a genetic disorder that can be passed down from parents to children. If the parents has Huntington's disease, there is a 50% chance the child will develop it.

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Population  affected by Huntington's Disease

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Population  affected by Huntington's Disease

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Anyone can get Huntington's Disease and there are many myths that only men can be effected by this disease. Both men and women can both get this disease as it is passed down from parents to children. However, there is a higher amount of people with Huntington's disease if they come from European descent. Ultimately, the most important factor in someone having this disease is if their parent also had it which has a 50 percent chance of the child also inheriting the disease.

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Currently, there are no available cures for Huntington's Disease. There are, however, Treatments such as talking in therapy or using drugs to lessen the symptoms involved with Huntington's Disease.

Drugs that are used to suppress involuntary movements are Tetrabenazine (Xenazine) and Deutrabenazine (Austedo). These drugs, however, do not stop the disease's progress and may cause other side effects such as Depression or other Psychiatric conditions.

The Antipsychotic Drugs that people with Huntington's Disease can also use are Haloperidol and Fluphenazine these drugs are used to treat symptoms caused by the disease and suppress symptoms of Schizophrenia but can also worsen other symptoms such as drowsiness or involuntary contractions.

Other medications for Psychiatric Disorders include Antidepressants such as Celexa, Prozac, Lexapro, and Zoloft. Mood-stabilizing drugs are also used in treatments for Huntington's Disease such as Depakote and Lamotrigine. These are used to treat manic episodes or bipolar disorder.

Other treatments for Huntington's Disease include talking to a Psychotherapist where the family can talk and help each other communicate about how they are doing. Speech Therapy, Physical Therapy, and Occupational Therapy are all other treatments that can help a person affected by Huntington's Disease.

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The long-term outlook for people with Huntington's Disease is a life that progressively gets worse and their motor functions starting to get worse. Since there is no cure for Huntington's Disease, a person diagnosed can only use different treatments such as different medications to stop the symptoms but not stop the overall progress of the disease. According to MayoClinic.Org "The time frame from the first symptom found to death is often 10-30 years." As we can see the eventual end point of this disease is death. Caregivers or family stepping in to help will be needed as the disease progresses. During the early stages it is also important to prepare for the later stages of the disease and start with thinking on how end of life care will be established. It's also important to make a living will because towards the later stages of the disease this person may not be able to think for themselves. Overall, the long-term outlook for Huntington's Disease is a loss of motor functions and eventually death.

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While there is still no cure found there is still research being discovered. New research is being discovered by The Korea Advanced Institute of Science and Technology (KAIST) on September 2, 2022." The new works showed that the protein converted from disease form to its disease-free form maintains its original function, providing new roadblocks to approach Huntington's disease." (Sciencedaily.com)

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Huntington's Disease Society of America- https://hdsa.org/find-help/community-social-support/hdsa-support-groups/

Huntington's Disease Support Group UC San Diego-
https://neurosciences.ucsd.edu/centers-programs/huntingtons-disease/education/support-group.html

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Huntington's Disease Society of America - Family Is Everything

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HDSA Online Support Groups

HDSA support groups are for individuals, their loved ones, and families impacted by Huntington's disease. If you are a student or related professional looking to observe a group, please reach out to the support group facilitator prior to the group. If you do not do so, you may be asked to leave the meeting to ensure privacy and confidentiality for support group members.

These support groups are free to join. There is limited space available so please register early. To register for a group please click join now or log in if you already have an account.

Coming October 1st! Support Groups Central is becoming HeyPeers!
Please re-register with HeyPeers at Heypeers.com and subscribe to Huntington's Disease Society of America (Organization)

HDSA Online Group Descriptions

Early stage participants are independently managing their own lives, but may be experiencing subtle changes such as difficulty concentrating, anxiety and depression, and some physical symptoms. This is a new group for those looking to talk with others in similar life situations about how HD impacts their lives early in the disease. Those attending will be from across the country and membership and leaders will likely change from month to month. Video capability is required.

This is a new group for any parent caring for a young or adult child with HD. Members and leaders will likely change from month to month due to expanded geography.

This HDSA group is open to caregivers of a loved one with HD who does not have access to an in person group because of distance, time constraints or difficulty with a loved one traveling to group or leaving a loved one alone. The group will meet monthly with a changing leader and changing members due to expanded geography.

This HDSA group is for adults age 18 and up who are at risk for HD. This group will have monthly meetings with changing leaders and varied members due to their geography. Members will get support from those in similar situations as they cope with their at risk status.

The Benefits of Sharing Your Experiences With Others

HDSA Support Groups are offered by HDSA Chapters, Affiliates, Regions and Centers of Excellence. Support groups can be led by a professional or by a peer (other HD family member or friend). Every support group leader is provided training by HDSA and assigned a mentor who can serve as a resource and support to the support group leader.

Support groups can offer vital emotional support along the continuum of HD, valuable advice about community-based resources as well as guidance from other support group members about many of HD's most challenging situations. Support groups can meet monthly or quarterly depending upon the number of participants and wishes of the group. Support groups can be established for everyone in the HD community -caregivers, those living with HD, those living at risk, youth at risk, etc.
CLICK HERE TO FIND A SUPPORT GROUP IN YOUR AREA If you would like to start a support group, contact MaryAnn Emerick at memerick@hdsa.org

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HDSA Support Groups - Huntington's Disease Society of America

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HDSA Online Support Groups HDSA support groups are for individuals, their loved ones, and families impacted by Huntington's disease. If you are a student or related professional looking to observe a group, please reach out to the support group facilitator prior to the group.

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Here is a helpful link to learn more about the Huntington disease

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Huntington's Disease, Genetics, Pathology and Symptoms, Animation

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“Establishing a Novel Strategy to Tackle Huntington's Disease.” ScienceDaily, ScienceDaily, 2 Sept. 2022, www.sciencedaily.com/releases/2022/09/220902090643.htm.

“HDSA Support Groups - Huntington's Disease Society of America.” Huntington's Disease Society of America - Family Is Everything, 7 Oct. 2022, hdsa.org/find-help/community-social-support/hdsa-support-groups/.

“Huntington's Disease.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 17 May 2022, www.mayoclinic.org/diseases-conditions/huntingtons-disease/diagnosis-treatment/drc-20356122.

“Huntington's Disease: Genetics, Juvenile Cases & Chorea.” Cleveland Clinic, my.clevelandclinic.org/health/diseases/14369-huntingtons-disease.

Huntington's Disease Support Group, neurosciences.ucsd.edu/centers-programs/huntingtons-disease/education/support-group.html.

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“Huntington Disease: Medlineplus Genetics.” MedlinePlus, U.S. National Library of Medicine, https://medlineplus.gov/genetics/condition/huntington-disease/#synonyms.

https://medlineplus.gov/genetics/condition/huntington-disease/#synonyms

UC Davis Health, Department of Neurology. “Genetics - Reproductive Options in HD.” UC Davis Health, https://health.ucdavis.edu/huntingtons/genetics-prenatal.html.

https://health.ucdavis.edu/huntingtons/genetics-prenatal.html

“Huntington's Disease.” National Institute of Neurological Disorders and Stroke, U.S. Department of Health and Human Services, https://www.ninds.nih.gov/health-information/disorders/huntingtons-disease.

https://www.ninds.nih.gov/health-information/disorders/huntingtons-disease

“Huntington's Disease.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 17 May 2022, https://www.mayoclinic.org/diseases-conditions/huntingtons-disease/diagnosis-treatment/drc-20356122.

https://www.mayoclinic.org/diseases-conditions/huntingtons-disease/diagnosis-treatment/drc-20356122

Photos

“CT Brain with or without Contrast.” Cedars, https://www.cedars-sinai.org/programs/imaging-center/med-pros/neuroradiology/ct-brain-contrast.html.

https://www.cedars-sinai.org/programs/imaging-center/med-pros/neuroradiology/ct-brain-contrast.html

Shilova, Ekaterina. “Vector Isolated Silhouette of a Pregnant Woman Holding Her Hand on...” IStock, https://www.istockphoto.com/vector/pregnant-woman-siluette-gm818981322-132484971.

https://www.istockphoto.com/vector/pregnant-woman-siluette-gm818981322-132484971

“Family Tree Images - Free Download on Freepik.” Freepik, 9 Oct. 2020, https://www.freepik.com/free-photos-vectors/family-tree.

https://www.freepik.com/free-photos-vectors/family-tree

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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

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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.