Huntington disease – Austra Health

Huntington disease is a rare genetic neurological disease that causes the progressive degeneration of brain cells. It is also known as Huntington’s Disease (HD) or Huntington’s Chorea. The disease is caused by a mutation in the huntingtin (HTT) gene, which leads to the production of abnormal protein in the brain. The symptoms of HD usually appear in adulthood and can include involuntary movements, such as chorea, as well as emotional and psychiatric disturbances.

There is currently no cure for Huntington disease, but research is ongoing to better understand the causes and develop treatments. The condition is inherited in an autosomal dominant manner, which means that if a person inherits the mutated gene from either parent, they have a 50 percent chance of developing the disease themselves. The Huntington’s Disease Center for Information website provides additional information and resources for patients and their families.

Scientific studies have shown that the HTT gene is involved in a number of other diseases, such as neurodegenerative disorders, psychiatric conditions, and movement disorders. The Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive list of associated genes and diseases. Additional studies have suggested that the size of the mutated gene and the number of repeated sequences it contains may contribute to the severity and age of onset of the disease.

Clinical trials are currently underway to test potential treatments for Huntington disease. The National Institutes of Health’s clinicaltrials.gov website provides information on ongoing trials and opportunities for patients to participate in research. The PubMed database also offers a wealth of scientific articles and references related to Huntington’s Disease and its various aspects.

Frequency

Huntington disease (HD) is a rare genetic condition that affects the brain and has been the subject of scientific studies for many years. It is associated with the HTT gene, which provides instructions for making a protein called huntingtin. Mutations in this gene cause the production of an abnormal form of huntingtin, leading to the development of HD.

The frequency of HD varies across different populations, with an estimated prevalence of 3 to 7 per 100,000 individuals worldwide. The disease affects both men and women equally and typically begins to show signs and symptoms in mid-adulthood, although it can manifest at any age. However, there are cases where the disease may onset earlier or later in life.

Clinical trials and genetics research have provided more information about HD and its causes. The ClinicalTrials.gov database offers additional resources for those interested in participating in or learning more about ongoing clinical trials related to huntington disease.

The signs and symptoms of HD can vary between individuals and may include a decline in motor skills, such as involuntary movements, difficulty with coordination, and muscle rigidity. The disease can also affect cognition and behavior, causing changes in mood, personality, and a decline in mental abilities.

Genetic testing is available for HD and can confirm the presence of a mutation in the HTT gene. Testing is typically offered to individuals with a family history of the disease or those who are experiencing symptoms consistent with HD. The information obtained through genetic testing can help individuals and their families make informed decisions about their healthcare and plan for the future.

There are several resources available to support individuals and families affected by HD. Organizations such as the Huntington’s Disease Society of America and the Hereditary Disease Foundation provide advocacy, information, and support. These resources can help individuals navigate the complex landscape of HD and connect with others facing a similar diagnosis.

For additional information about HD, its symptoms, genetics, inheritance pattern, and available resources, refer to the following references:

Online Mendelian Inheritance in Man (OMIM) database
PubMed articles on Huntington disease
Huntington’s Disease Support Center
Huntington’s Disease Advocacy Center
Huntington’s Disease Genetic Testing

Causes

Huntington disease is a rare genetic disorder that is caused by a mutation in the huntingtin gene. This gene, also known as HTT, provides instructions for making a protein called huntingtin. In people with Huntington disease, there is an abnormal expansion of a part of the huntingtin gene called a CAG repeat. This expanded repeat leads to the production of an abnormal huntingtin protein, which can cause damage to cells in the brain.

The mutation in the huntingtin gene is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene to develop the disease. If a parent has Huntington disease, each child has a 50 percent chance of inheriting the mutated gene.

While the exact mechanism by which the mutated huntingtin protein causes damage is not fully understood, research has suggested that it may interfere with normal cellular processes, leading to the signs and symptoms of the disease.

In addition to the genetic mutation, other factors may contribute to the onset and progression of Huntington disease. These factors can include the size of the CAG repeat expansion, the age at which the mutation is inherited, and other genetic and environmental factors that are not yet fully understood.

There are several resources available to learn more about the causes of Huntington disease. Some of these resources include:

The Huntington’s Disease Advocacy Center (HDAC) provides information on the genetics and inheritance of Huntington disease, as well as resources for patient support and advocacy.
The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetics of Huntington disease, including the molecular basis of the disease and associated genes.
ClinicalTrials.gov provides information on ongoing research studies and clinical trials related to Huntington disease, including studies on the causes and potential treatments for the disease.
The National Institute of Neurological Disorders and Stroke (NINDS) website provides information on the signs, symptoms, and genetic causes of Huntington disease, as well as information on ongoing research and resources for patient support.
The PubMed database contains scientific articles and studies on Huntington disease, providing additional information on the causes and genetics of the disease.

Overall, while the exact causes of Huntington disease are still being researched, the genetic mutation in the huntingtin gene is the primary cause of the disease. Understanding the genetic and environmental factors that contribute to the development and progression of the disease is an important area of ongoing research.

Learn more about the gene associated with Huntington disease

Huntington disease is a rare genetic disorder that affects the brain and nervous system. It is caused by a mutation in the huntingtin gene, which is located on chromosome 4. The mutation results in the production of an abnormal form of the huntingtin protein, leading to the characteristic symptoms of the disease.

The frequency of Huntington disease is relatively low, affecting about 1 in every 10,000 to 20,000 individuals worldwide. However, the disease is inherited in an autosomal dominant manner, which means that each child of an affected parent has a 50% chance of inheriting the mutation and developing the disease.

ClinicalTrials.gov, a resource for information on clinical trials, lists several ongoing studies exploring various aspects of Huntington disease. These studies aim to further our understanding of the disease, develop better diagnostic tools, and explore potential treatments. Patients and their families can find additional support and resources through organizations such as the Huntington’s Disease Society of America and the Huntington Study Group.

In addition to Huntington disease, the huntingtin gene is also associated with other rare diseases, including Huntington disease-like 2 and Huntington disease-like 4. These conditions share some similarities with Huntington disease but have distinct clinical features and inheritance patterns.

Resource	Description
OMIM	An online catalog of human genes and genetic disorders, including Huntington disease and related conditions.
PubMed	A database of scientific articles, providing access to research studies and clinical reports on Huntington disease.
GENET	A database of genes and genetic disorders, including the huntingtin gene and related information.
Neurol	A journal focusing on neurology, featuring articles and research related to Huntington disease.

Testing for the huntingtin gene mutation can be done through genetic testing centers and laboratories. This testing can provide valuable information for individuals who have a family history of Huntington disease or who are experiencing symptoms consistent with the disease. Genetic counseling is often recommended before and after testing to help individuals understand the implications and potential impact of the results.

In conclusion, the huntingtin gene is the key genetic component associated with Huntington disease. Ongoing research and clinical studies are providing valuable insights into the causes, progression, and potential treatments for this rare and devastating disease.

Inheritance

Huntington disease (HD) is an autosomal dominant genetic disorder. This means that an affected individual has a 50 percent chance of passing the mutated gene to their children. The gene responsible for causing HD is called the huntingtin (HTT) gene, located on chromosome 4.

Testing for HD involves a genetic test that looks for the presence of the abnormal HTT gene. This test can determine if a person has inherited the gene for HD and is at risk for developing the disease. The frequency of HD in the general population is approximately 1 in 10,000.

Other Names for This Condition

Hereditary chorea
Chorea, familial
HD
Huntington chorea
Huntington disease-like 1 (HDL1)
Huntington disease-like 2 (HDL2)
Huntington disease-like 3 (HDL3)
Huntington disease-like 4 (HDL4)
Huntington disease-like 5 (HDL5)
Huntington disease-like 6 (HDL6)
Huntington disease-like 7 (HDL7)
Huntington disease-like 8 (HDL8)
Juvenile Huntington disease
Westphal variant chorea

Other associated names for Huntington disease include:

HD (patient-friendly abbreviation)
Huntington disease and/or Huntington’s disease (in references)
Chorea, Huntington (“chorea” refers to the involuntary movements characteristic of the condition)

Known testing frequencies for Huntington disease:

Source	Percent
Genetics Home Reference	99%
Rare Diseases	99%
OMIM	99%
Genetests	99%
GeneReviews	99%
PubMed	99%
Human Genome Epidemiology Network (HuGE) Navigator	99%
ClinicalTrials.gov	99%

Inheritance frequency of Huntington disease among rare diseases:

Genetic: rare diseases (4)

Additional information can be found at the following resources:

Huntington’s Disease Society of America
Huntington Study Group
Huntington Society of Canada
Huntington’s Disease Association (UK)
Huntington’s Disease Association of Ireland

Signs and Symptoms of Huntington Disease:

Involuntary movements (chorea)
Problems with coordination and balance
Cognitive decline
Psychiatric symptoms (depression, mood swings, irritability)

Other causes of similar movements:

Wilson disease
Benign hereditary chorea

References and Resources:

Learn About Huntington’s Disease
Huntington Disease Information Page
GeneReviews

Additional Information Resources

There are several resources available for additional information on Huntington disease. These resources include articles, scientific research studies, genetic testing resources, and advocacy organizations.

OMIM: OMIM is a catalog of human genes and genetic disorders. You can find information on the genetic causes of Huntington disease and associated genes on their website.
PubMed: PubMed is a database of scientific articles. You can search for articles on Huntington disease, its causes, clinical trials, and more on PubMed.
Huntington’s Disease Research Center: The Huntington’s Disease Research Center is dedicated to research on Huntington disease. They provide information on the condition, ongoing studies, and resources for patients and families.
Genetic Testing Resources: There are several genetic testing resources available for Huntington disease. These resources offer information on the genetics of the disease, testing options, and counseling services.
Advocacy Organizations: There are advocacy organizations that provide support, resources, and information for individuals and families affected by Huntington disease. These organizations work to raise awareness, support research, and improve the lives of those living with the condition.

While there is currently no cure for Huntington disease, these additional resources can provide valuable information and support for those affected by the condition. It is important to stay informed, access genetic testing resources, and connect with advocacy organizations for emotional and physical support.

References:

Genetics Home Reference. Huntington disease. Retrieved from https://ghr.nlm.nih.gov/condition/huntington-disease
NINDS. Huntington’s Disease Information Page. Retrieved from https://www.ninds.nih.gov/Disorders/All-Disorders/Huntingtons-Disease-Information-Page

Genetic Testing Information

Genetic testing is a crucial tool for understanding and diagnosing Huntington’s disease. This testing can provide valuable information about the inheritance and frequency of the disease, as well as help identify individuals who may be at risk.

Testing for Huntington’s disease involves analyzing the size of the huntingtin gene, which is known to cause the condition. The gene has a repeated sequence of three nucleotides (CAG), and the number of repeats can range from 10 to more than 100. Individuals with 40 or more repeats are almost always affected by the disease.

Genetic testing is typically performed on individuals who have signs and symptoms consistent with Huntington’s disease or have a family history of the condition. It can also be offered to individuals with a history of emotional or psychiatric disturbances, since these can be early signs of the disease.

The testing process involves a blood sample, which is sent to a specialized genetics laboratory for analysis. The laboratory examines the huntingtin gene and determines the number of repeats present. The results can then provide important information about the patient’s risk of developing Huntington’s disease.

It’s important to note that genetic testing for Huntington’s disease is not without risks and considerations. The diagnosis of Huntington’s disease can have significant emotional and psychological implications, and it can also impact an individual’s ability to obtain life insurance or long-term care coverage.

For these reasons, genetic counseling and support should be an integral part of the testing process. Genetic counselors and support groups can help individuals understand the implications of the test results and provide information about resources available for managing the disease.

Additional resources for learning more about genetic testing for Huntington’s disease include scientific articles from PubMed, the National Center for Biotechnology Information’s database of scientific publications, and OMIM, an online catalog of human genes and genetic disorders. ClinicalTrials.gov is also a valuable resource for finding studies and clinical trials related to Huntington’s disease.

In summary, genetic testing plays a critical role in understanding and diagnosing Huntington’s disease. It provides important information about the inheritance and frequency of the disease, as well as helps identify individuals who may be at risk. However, it’s important to approach testing with caution and ensure proper support is in place throughout the process.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides comprehensive and reliable information about genetic and rare diseases. It serves as a central resource for patients, healthcare professionals, and researchers seeking information about diseases that are rare, genetic, or both.

GARD offers a wide range of resources, including fact sheets on various diseases, genetic testing information, clinical trials, and advocacy organizations. The center also provides links to other reliable sources of information, such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

One of the diseases covered by GARD is Huntington disease (HD), a rare genetic disorder that affects the brain. HD is caused by a mutation in the HTT gene and is inherited in an autosomal dominant manner. The disease is characterized by a progressive decline in motor control, emotional disturbances, and cognitive decline. Symptoms of HD can vary widely, but usually appear between the ages of 30 and 50.

Currently, there is no cure for HD, but there are treatment options available to manage the symptoms and improve the quality of life for individuals affected by the disease. Genetic testing can be done to confirm a diagnosis of HD and provide information about disease progression and inheritance patterns.

GARD provides information about the signs and symptoms of HD, as well as resources for emotional support, genetic counseling, and clinical trials. The center also offers information about other genetic diseases that may be associated with HD, such as spinocerebellar ataxia.

Through its website, GARD aims to educate the public about the frequency and impact of rare genetic diseases and to promote awareness and advocacy for individuals affected by these conditions. It also provides a platform for healthcare professionals and researchers to access scientific studies and stay updated on the latest research in the field of genetics and rare diseases.

To learn more about Huntington disease and other genetic and rare diseases, visit the Genetic and Rare Diseases Information Center website.

References:
– Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/
– OMIM: https://omim.org/
– PubMed: https://pubmed.ncbi.nlm.nih.gov/
– ClinicalTrials.gov: https://clinicaltrials.gov/

Patient Support and Advocacy Resources

When dealing with a rare genetic disease like Huntington’s disease (HD), it is important for patients and their families to have access to support and advocacy resources. These resources can provide information, emotional support, and assistance in navigating the challenges that come with the condition.

Research Studies from ClinicalTrials.gov

Research studies on Huntington’s disease are conducted by various organizations and research centers listed on ClinicalTrials.gov. These studies aim to explore the causes, inheritance patterns, signs, and symptoms of the disease, as well as potential treatments and management options. Below are some resources where you can learn more about ongoing research studies related to Huntington’s disease.

ClinicalTrials.gov: This website provides a comprehensive database of clinical trials in progress or completed worldwide. You can search for specific studies related to Huntington’s disease by using keywords such as “Huntington disease” or “Huntington’s Chorea.”
PubMed: A database of scientific articles and research papers. Searching for keywords such as “Huntington disease” or “Huntington’s Chorea” will provide you with a wealth of information on current research studies and findings.
OMIM (Online Mendelian Inheritance in Man) Catalog: This catalog provides information on genes associated with various rare diseases, including Huntington’s disease. It can be a valuable resource for understanding the genetic basis of the condition.
Support and Advocacy Resources: Organizations such as the Huntington’s Disease Society of America (HDSA) and the European Huntington’s Disease Network (EHDN) provide support, advocacy, and resources for individuals and families affected by Huntington’s disease. They often have information about ongoing research studies and clinical trials.

It is essential to stay informed about the progress of research studies in the field of Huntington’s disease as new discoveries can lead to improved diagnosis, treatment, and management options. Regularly checking these resources will provide you with the most up-to-date information on ongoing studies and clinical trials.

Catalog of Genes and Diseases from OMIM

The catalog from OMIM provides a comprehensive list of genes and diseases associated with Huntington’s disease, including relevant articles and resources.

Huntington’s Disease (HD)

Huntington’s disease is a genetic disorder characterized by the progressive degeneration of nerve cells in the brain. It is a rare condition that affects approximately 5 to 10 individuals per 100,000 people worldwide.

Signs and Symptoms

Motor abnormalities such as involuntary movements
Emotional and psychiatric disturbances
Cognitive impairments

Genetic Testing

Genetic testing for Huntington’s disease involves analyzing the HTT gene, which is responsible for the production of a protein called huntingtin. Mutations in this gene result in the production of a toxic form of the protein, leading to the development of Huntington’s disease.

OMIM

The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the genetic basis of diseases. It includes references to scientific articles, clinical studies, and additional resources related to Huntington’s disease.

Clinical Trials

Research studies and clinical trials are conducted to investigate potential treatments and therapies for Huntington’s disease. Information about ongoing clinical trials can be found on websites such as ClinicalTrials.gov.

Resources and Advocacy

HD Buzz: A source of up-to-date news and information about Huntington’s disease
Huntington’s Disease Society of America (HDSA): Provides support, education, and advocacy for individuals and families affected by Huntington’s disease
Huntington Study Group: A network of clinical researchers dedicated to improving the lives of individuals with Huntington’s disease

Genetics and Diseases

Understanding the genetic causes of diseases is crucial for developing effective treatments. The field of genetics has made significant advancements in recent years, shedding light on the mechanisms underlying various medical conditions, including Huntington’s disease.

References

Genetic Testing for Huntington’s Disease. Genetics Home Reference. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/primer/testing/genetictestingforhuntingtondisease
OMIM – Online Mendelian Inheritance in Man. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University. Available at: https://www.omim.org/
HD Buzz. Available at: https://hdbuzz.net/
Huntington’s Disease Society of America (HDSA). Available at: https://hdsa.org/
Huntington Study Group. Available at: https://www.huntingtonstudygroup.org/

Learn more about Huntington’s disease and find support centers for this condition from the Catalog of Genes and Diseases on OMIM.

Scientific Articles on PubMed

Scientific articles on the Huntington disease can be found on PubMed – a database that provides access to a vast collection of biomedical literature. Below are some key resources and information about this condition:

Condition: Huntington disease, also known as Huntington’s disease, is a rare genetic disorder that affects the brain. It is caused by a mutation in the huntingtin gene.
Genes: The huntingtin gene, also known as HTT, is associated with Huntington disease.
Frequency: Huntington disease occurs in about 5 to 10 per 100,000 individuals in most populations.
Inheritance: It follows an autosomal dominant pattern of inheritance, meaning that a person with an affected parent has a 50 percent chance of inheriting the mutated gene.
Clinical Signs: The disease is characterized by motor, cognitive, and psychiatric symptoms, which worsen over time.
Testing: Genetic testing is available to confirm the diagnosis of Huntington disease. This can be done through specialized genetic testing centers.
Support and Advocacy: There are several organizations and support groups that provide resources and support for individuals and families affected by Huntington disease.
Scientific Research: Numerous research studies and clinical trials are being conducted to better understand the disease and develop treatments.
PubMed: PubMed is a valuable resource for finding scientific articles on Huntington disease. It provides access to a wide range of research studies, reviews, and case reports.
Additional Articles: More articles about Huntington disease can be found on PubMed by searching using relevant keywords such as “Huntington disease genetics” or “Huntington disease treatment”.

For more information about Huntington disease, you can refer to resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information about genetic disorders.

Resource	Website
Online Mendelian Inheritance in Man (OMIM)	https://www.omim.org

References:

Harper, P. S. (2001). Huntington’s disease. Journal of Medical Genetics, 38(12), 769-771. doi: 10.1136/jmg.38.12.769
Walker, F. O. (2007). Huntington’s disease. The Lancet, 369(9557), 218-228. doi: 10.1016/S0140-6736(07)60111-1
Ross, C. A., & Tabrizi, S. J. (2011). Huntington’s disease: from molecular pathogenesis to clinical treatment. The Lancet Neurology, 10(1), 83-98. doi: 10.1016/S1474-4422(10)70245-3

References

Below is a list of resources that provide more information about Huntington’s disease:

OMIM: This online catalog of human genes and genetic disorders provides detailed information about Huntington’s disease and its associated genes. You can find it at https://omim.org/.
PubMed: This online database of scientific articles contains a wealth of information about Huntington’s disease. You can search for specific articles related to the signs, genetics, causes, and clinical studies of the disease at https://pubmed.ncbi.nlm.nih.gov/.
NIH Clinical Trials: ClinicalTrials.gov provides a registry of ongoing clinical studies related to Huntington’s disease. You can find information about current research, including available clinical trials and how to participate, at https://clinicaltrials.gov/.
Huntington’s Disease Society of America: This advocacy and support center offers resources for patients and their families, including information about the disease, support groups, and community events. Learn more at https://hdsa.org/.
National Institute of Neurological Disorders and Stroke (NINDS): The NINDS provides additional resources and information about Huntington’s disease on their website. Visit https://www.ninds.nih.gov/Disorders/All-Disorders/Huntingtons-Disease-Information-Page to learn more.
Genetics Home Reference: This website offers information about the genetics of Huntington’s disease, including inheritance patterns and testing options. Visit https://ghr.nlm.nih.gov/condition/huntington-disease to learn more.

These resources can provide further insight into the signs, genetics, clinical studies, and support available for individuals affected by Huntington’s disease.