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Chromosome carrying Huntington's disease 🚶🏻‍♀️🦠

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Chromosome carrying Huntington's disease 🚶🏻‍♀️🦠

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Pedigree chart of huntington's disease 🧬

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Pedigree chart of huntington's disease 🧬

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Involuntary jerking or writhing movements (chorea)

Muscle problems, such as rigidity or muscle contracture (dystonia)

Slow or unusual eye movements

Impaired gait, posture and balance

Difficulty with speech or swallowing

Difficulty organizing, prioritizing or focusing on tasks

Lack of flexibility or the tendency to get stuck on a thought, behavior or action (perseveration)

Lack of impulse control that can result in outbursts, acting without thinking and sexual promiscuity

Lack of awareness of one's own behaviors and abilities

Slowness in processing thoughts or ''finding'' words

Difficulty in learning new information

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Overview

Huntington's disease is a rare, inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain. Huntington's disease has a wide impact on a person's functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders.

Huntington's disease symptoms can develop at any time, but they often first appear when people are in their 30s or 40s. If the condition develops before age 20, it's called juvenile Huntington's disease. When Huntington's develops early, symptoms are somewhat different and the disease may progress faster.

Medications are available to help manage the symptoms of Huntington's disease. But treatments can't prevent the physical, mental and behavioral decline associated with the condition.

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Symptoms

Huntington's disease usually causes movement, cognitive and psychiatric disorders with a wide spectrum of signs and symptoms. Which symptoms appear first varies greatly from person to person. Some symptoms appear more dominant or have a greater effect on functional ability, but that can change throughout the course of the disease.

Movement disorders

The movement disorders associated with Huntington's disease can include both involuntary movement problems and impairments in voluntary movements, such as:

Involuntary jerking or writhing movements (chorea)

Muscle problems, such as rigidity or muscle contracture (dystonia)

Slow or unusual eye movements

Impaired gait, posture and balance

Difficulty with speech or swallowing

Impairments in voluntary movements - rather than involuntary movements - may have a greater impact on a person's ability to work, perform daily activities, communicate and remain independent.

Cognitive disorders

Cognitive impairments often associated with Huntington's disease include:

Difficulty organizing, prioritizing or focusing on tasks

Lack of flexibility or the tendency to get stuck on a thought, behavior or action (perseveration)

Lack of impulse control that can result in outbursts, acting without thinking and sexual promiscuity

Lack of awareness of one's own behaviors and abilities

Slowness in processing thoughts or ''finding'' words

Difficulty in learning new information

Psychiatric disorders

The most common psychiatric disorder associated with Huntington's disease is depression. This isn't simply a reaction to receiving a diagnosis of Huntington's disease. Instead, depression appears to occur because of injury to the brain and subsequent changes in brain function. Signs and symptoms may include:

Feelings of irritability, sadness or apathy

Social withdrawal

Insomnia

Fatigue and loss of energy

Frequent thoughts of death, dying or suicide

Other common psychiatric disorders include:

Obsessive-compulsive disorder, a condition marked by recurrent, intrusive thoughts and repetitive behaviors

Mania, which can cause elevated mood, overactivity, impulsive behavior and inflated self-esteem

Bipolar disorder, a condition with alternating episodes of depression and mania

In addition to the above disorders, weight loss is common in people with Huntington's disease, especially as the disease progresses.

Symptoms of juvenile Huntington's disease

The start and progression of Huntington's disease in younger people may be slightly different from that in adults. Problems that often present early in the course of the disease include:

Behavioral changes

Difficulty paying attention

Rapid, significant drop in overall school performance

Behavioral problems

Physical changes

Contracted and rigid muscles that affect gait (especially in young children)

Tremors or slight involuntary movements

Frequent falls or clumsiness

Seizures

When to see a doctor

See your health care provider if you notice changes in your movements, emotional state or mental ability. The signs and symptoms of Huntington's disease can be caused by a number of different conditions. Therefore, it's important to get a prompt, thorough diagnosis.

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Causes

Huntington's disease is caused by an inherited difference in a single gene. Huntington's disease is an autosomal dominant disorder, which means that a person needs only one copy of the nontypical gene to develop the disorder.

With the exception of genes on the sex chromosomes, a person inherits two copies of every gene - one copy from each parent. A parent with a nontypical gene could pass along the nontypical copy of the gene or the healthy copy. Each child in the family, therefore, has a 50% chance of inheriting the gene that causes the genetic disorder.

Complications

After Huntington's disease starts, a person's functional abilities gradually worsen over time. The rate of disease progression and duration varies. The time from the first symptoms to death is often about 10 to 30 years. Juvenile Huntington's disease usually results in death within 10 years after symptoms develop.

The clinical depression associated with Huntington's disease may increase the risk of suicide. Some research suggests that the greatest risk of suicide occurs before a diagnosis is made and in the middle stages of the disease when a person starts to lose independence.

Eventually, a person with Huntington's disease requires help with all activities of daily living and care. Late in the disease, the person will likely be confined to a bed and unable to speak. Someone with Huntington's disease is generally able to understand language and has an awareness of family and friends, though some won't recognize family members.

Common causes of death include:

Pneumonia or other infections

Injuries related to falls

Complications related to the inability to swallow

Prevention

People with a known family history of Huntington's disease are understandably concerned about whether they may pass the Huntington gene on to their children. These people may consider genetic testing and family planning options.

If an at-risk parent is considering genetic testing, it can be helpful to meet with a genetic counselor. A genetic counselor will discuss the potential risks of a positive test result, which would indicate that the parent will develop the disease. Also, couples will need to make additional choices about whether to have children or to consider alternatives, such as prenatal testing for the gene or in vitro fertilization with donor sperm or eggs.

Another option for couples is in vitro fertilization and preimplantation genetic diagnosis. In this process, eggs are removed from the ovaries and fertilized with the father's sperm in a laboratory. The embryos are tested for presence of the Huntington gene, and only those testing negative for the Huntington gene are implanted in the mother's uterus.

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Huntington's disease - Symptoms and causes

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This condition causes a progressive breakdown of nerve cells in the brain. Find out about what signs to watch for and how treatments may help.

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One organization that is promoting huntington's disease 💞

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One organization that is promoting huntington's disease 💞

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The Huntington’s Disease Society of America-CT Affiliate (HDSA-CT) is one of 38 chapters and affiliates of the national HDSA, a voluntary, not-for-profit health organization dedicated to improving the lives of people with Huntington’s disease and their families. The mission for which the Society was formed and shall operate are: to promote and support research on Huntington’s disease to eradicate the disease; to assist people and families affected by Huntington’s disease to cope with the problems presented by the disease; to educate the public and health professionals about Huntington’s disease.

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National Organization for Rare Disorders

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About Huntington's Disease Society of America - Connecticut Affiliate

The Huntington's Disease Society of America-CT Affiliate (HDSA-CT) is one of 38 chapters and affiliates of the national HDSA, a voluntary, not-for-profit health organization dedicated to improving the lives of people with Huntington's disease and their families. The mission for which the Society was formed and shall operate are: to promote and support research on Huntington's disease to eradicate the disease; to assist people and families affected by Huntington's disease to cope with the problems presented by the disease; to educate the public and health professionals about Huntington's disease. The CT Affiliate collaborates with UCONN Health Center's Huntington's Disease Program by referring any patients/family members to them for counseling and genetic testing and support groups. All services are free of charge for Connecticut residents. Contact information is: Bonnie L. Hennig, MSW, LCSW, Clinical Therapist/Site Coordinator CREST-E, University of Connecticut Health Center, Huntington's Disease Program, 263 Farmington Avenue, Dowling North-Second Floor, Farmington, CT 06030-6204, (860) 679-444.

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Huntington's Disease Society of America - Connecticut Affiliate - National Organization for Rare Disorders

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The Huntington's Disease Society of America-CT Affiliate (HDSA-CT) is one of 38 chapters and affiliates of the national HDSA, a voluntary, not-for-profit health organization dedicated to improving the lives of people with Huntington's disease and their families.

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Research being done on huntington's disease 🧑‍🔬

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Research being done on huntington's disease 🧑‍🔬

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NINDS-funded researchers are trying to better understand the cellular and molecular mechanisms involved in HD by investigating, for instance, how the huntintin protein affects cell signaling and how its altered structure can contribute to disease.

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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 a heredity disorder passed on by a parent to a child by mutation gene

- In the United States, HD occurs in about one of every 10,000 to 20,000 people.

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Huntington's disease (HD) is a fatal condition typically characterized by involuntary movements and dementia. The disease is caused by genetically programmed degeneration of brain cells, called neurons, in certain areas of the brain. This causes uncontrolled movements, loss of intellectual faculties and emotional disturbance. The disease is a hereditary disorder passed on by a parent to child through a mutation in a gene.

In the United States, Huntington's disease occurs in about one of every 10,000 to 20,000 people. It affects males and females equally and crosses all ethnic and racial boundaries. Typically, symptoms begin between age 30 and 55.

Children of parents with Huntington's disease have a 50 percent chance of inheriting the HD gene. If a child does not inherit the gene, he or she won't develop the disease and can't pass it on. A person who inherits the HD gene will eventually develop the disease.

Whether a child inherits the gene has no bearing on whether other siblings will or won't inherit the gene. In 1 to 3 percent of individuals with HD, there is no family history of the disease.

At this time, there is no cure or treatment to reverse the course of the disease. UCSF specialists are studying the Huntington's disease gene to better understand how to treat the condition.

Our Approach to Huntington's Disease

We provide comprehensive treatment plans for patients living with Huntington's disease, as well as genetic counseling and testing for families at risk for this genetic brain disorder. With the goal of giving patients the best possible quality of life, our team also coordinates services such as symptom management, physical therapy, psychiatric care and palliative care. Our researchers are studying better ways to treat HD, and we offer patients opportunities to participate in this research through clinical trials.

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Huntington's disease (HD) is a fatal condition typically characterized by involuntary movements and dementia. The disease is caused by genetically programmed degeneration of brain cells, called neurons, in certain areas of the brain. This causes uncontrolled movements, loss of intellectual faculties and emotional disturbance.

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There is no treatment for HD but some symptoms may be treated:

- Drugs like tetrabenazine and deuterabenazine can treat chorea also associated with HD

- Antipsychotic drugs could ease chorea and help to control the delusions and voilent outbursts

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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. People living with HD develop uncontrollable dance-like movements (chorea) and abnormal body postures, as well as problems with behavior, emotion, thinking, and personality.

ncontrolled movements in the person's fingers, feet, face, or torso. These movements are signs of chorea. They can get more intense when the person is nervous or distracted; as HD progresses, the person's movements can become more extreme and obvious.

Early signs of HD can vary, but often include mild clumsiness or problems with balance or movement, cognitive or psychiatric symptoms (problems with thinking or emotion), and changes in behavior.For some people, chorea can make it harder to walk, which increases the chances of falling. Some people with HD do not develop chorea; instead, they may become rigid (stiff) and move very little or not at all. This condition is called akinesia. Other people may start out with chorea but become rigid as the disease progresses.

In addition to chorea, some individuals have unusual fixed (unchanging) postures, which is known as dystonia. The two movement disorders (akinesia and dystonia) can blend or alternate.

Other symptoms may include tremor (unintentional back-and-forth movement in the person's muscles) and unusual eye movements. The eye movements can happen early in the disease.

Changes in thinking (cognitive changes)may include problems with attention or judgment and having difficulty solving problems or making decisions.

The most effective and accurate method of testing for HD-called the direct genetic test-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. A test result of 26 or fewer repeats rules out HD.

An older genetic test, calledlinkage testing (also called prenatal exclusion testing) requires a sample of DNA from a closely related affected relative, preferably a parent, to identify markers close to the HD gene and to determine if a fetus has inherited a chromosome 4 mutation from an affected grandparent. A version of the linkage method is sometimes used for prenatal testing.

Prenatal testing is an option for people who have a family history of HD and are concerned about passing the disease to a child. Prenatal testing can be done using either the direct method or the linkage method. As with adult testing, the direct method provides higher certainty.

Learn About Clinical Trials

Clinical trials are studies that allow us to learn more about disorders and improve care. They can help connect patients with new and upcoming treatment options.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with HD at Clinicaltrials.gov.

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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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Huntington's Disease
Huntingtons Chorea

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Description

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

Adult-onset Huntington's 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's 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's disease usually live about 15 to 20 years after signs and symptoms begin.

A less common form of Huntington's 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's 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's 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

Variants (also called mutations) in the gene cause Huntington's 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 variant that causes Huntington's 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's 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's 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's 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's 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's 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's 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's disease (36 repeats or more).

Other Names for This Condition

Huntington chorea

Huntington chronic progressive hereditary chorea

Huntington disease

Huntington's chorea

Additional Information & Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

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. Citation on PubMed

Caron NS, Wright GEB, Hayden MR. Huntington Disease. 1998 Oct 23 [updated 2020 Jun 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. 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. doi: 10.2310/7010.2006.00055. 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. 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. Citation on PubMed

Kent A. Huntington's disease. Nurs Stand. 2004 Apr 21-27;18(32):45-51; quiz 52-3. doi: 10.7748/ns2004.04.18.32.45.c3596. 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. 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. doi: 10.1176/appi.ajp.161.1.28. No abstract available. Citation on PubMed

Walker FO. Huntington's disease. Lancet. 2007 Jan 20;369(9557):218-28. doi: 10.1016/S0140-6736(07)60111-1. Citation on PubMed

Young AB. Huntingtin in health and disease. J Clin Invest. 2003 Feb;111(3):299-302. doi: 10.1172/JCI17742. No abstract available. Citation on PubMed or Free article on PubMed Central

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Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition). Explore symptoms, inheritance, genetics of this condition.