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Huntington's Disease

What is Huntington's Disease?

Huntington's disease is a progressive brain disease characterized by the continuous loss of brain cells (neurons). Individuals with Huntington's Disease can experience uncontrolled movements, memory or cognitive issues, and behavioral changes.  As symptoms begin to appear and the disease continues to progress, disability and fatality is possible.

 


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Huntington's disease is a progressive brain disease characterized by the continuous loss of brain cells (neurons). Individuals with Huntington's Disease can experience uncontrolled movements, memory or cognitive issues, and behavioral changes.  As symptoms begin to appear and the disease continues to progress, disability and fatality is possible.

Acknowledgement of Huntington's Disease has not been added yet.

The prevalence in the United States is estimated to be 4.1 to 8.4 per 100,000 people. The frequency varies in other countries.  In most of Europe, the prevalence ranges from 1.63 to 9.95 per 100,000 people. In Finland and Japan, the prevalence is less than 1 per 100,000 people.  There are other regions with an unusually high prevalence: Lake Maracaibo in Venezuela (700 per 100,000 people), Mauritius Island in Africa (46 per 100,000), and Tasmania Island in Australia (17.4 per 100,000).

Synonyms for Huntington's Disease has not been added yet.

Huntington's disease is an inherited disorder. It is caused by an alteration in the HHT gene. People receive two copies of most genes; one received from the mother and one from the father. Hungtington diseaseIt is an autosomal dominant disorder; meaning that if only one copy of the gene is altered, that is enough to cause the disease.

The HTT gene at chromosome 4 is responsible for building the protein called hungtingtin. The exact function of this protein is unclear, but it is thought to play a role in brain cell function. A segment of the hungtingtin protein consisting of the amino acid glutamine, denoted by the genetic code CAG, typically repeats approximately 10 to 35 times. Huntington's Disease is caused by mutations or changes on the HTT gene that causes this segment to repeat over 35 times. The segment is repeated so many times that it creates an extremely long hungtingtin protein.  The protein segments have a “glue effect”, sticking together and causing “aggregates”. The “aggregates” cause the disease symptoms to manifest because it causes the brain cells to function abnormally and eventually die. How these “aggregates” trigger the death of brain cells are unclear, but the “aggregates” and the number of CAG segment repeats are inversely correlated to the age of onset.  Meaning, the more “aggregates” and CAG segment repeats there are, the earlier the onset of the disease. The onset is typically around age 35 to 44. There are reports of cases ranging from age 2 to 80. Environmental factors and other genes can influence the age of onset.

Symptoms typically develop around age 35 to 44 but can appear as early as age 2, or as late as age 80. Patients can experience uncontrolled movements (chorea) in the arms, legs, head, and face. There is a progressive decline in memory, thinking, reasoning, concentration, judgement, and organization. There is an increase in irritability, anxiety, depression, anger, and obsessive-compulsive behavior, which causes repetitive questions and movements. Mood alterations and behavioral changes are common.  The increase in stress can lead to heart disease and the increase in depression may lead to suicidal thoughts. As the symptoms develop, they may worsen over the next 10 to 25 years. Patients may develop slurred speech, difficulty swallowing, and significant weight loss, possibly leading to choking, respiratory, and gastrointestinal problems.

There is a juvenile form of the disorder that develops around in children or teen-agers. Symptoms can include involuntary muscle movements, slowness of movements, and clumsiness. There are also changes in behavior and the ability to think clearly. There may also be stiffness of the legs, seizures, and swallowing or speech difficulties. The onset of these symptoms is slow and the progression can vary among affected individuals. Generally, there is a family history of Huntington´s disease in people with the juvenile form.

In 1993, the HTT gene was identified. Genetic testing is now available to confirm the affected gene for the hungtingtin protein in individuals that suspect Huntington's disease or individuals who are at risk because a parent has the disease. There is debate as to whether people at risk for this disorder should be tested if symptoms aren’t present. Because there is no effective treatment, some people choose not to be tested until symptoms become apparent.

The Huntington’s Disease Society of America (HDSA) recommends at-risk individuals to find a genetic testing center that follows the HDSA testing guidelines. These centers have experts in Huntington´s disease and many local offices. It is highly recommended to receive genetic counseling before and after genetic testing. Results of genetic testing can take several weeks. Genetic testing is not recommended for individuals under age 18.  Children can have juvenile onset of Huntington´s disease and can be diagnosed with a neurological (brain) exam. You can find more information at hdsa.org.

Currently, there is no treatment to stop or reverse the disease. Treatment focuses on managing the symptoms. Different types of medications can be prescribed to treat movements, mood stability, depression, and anxiety. For example, antipsychotic drugs can help with moods and movements. There is a drug called tetrabenazine which is specifically indicated for involuntary movements in Huntington's disease. Antidepressants, anti-anxiety medications, and insomnia drugs are used as well.

Huntington's disease can cause disability and fatality. The disease usually runs its full course in 10 to 30 years. The earlier the disease appears, the faster it progresses. The disease itself is not fatal, but other life-threatening complications related to the disease can be fatal. Pneumonia and heart disease are the leading two causes of death in affected individuals. There are high risks of falling and choking. Suicides, respiratory complications and gastrointestinal diseases (such as pancreatic cancer) are common as well. The overall physical, emotional, and mental stresses cause the body to weaken and makes it more difficult to fight off diseases. To prolong life, it is recommended to use extra care when eating, this can prevent choking and aspiration pneumonia. Exercising and sleeping in an elevated position can prevent respiratory infections. Healthy diet can decrease risk for heart diseases.

Tips or Suggestions of Huntington's Disease has not been added yet.

Caterino, M., et al. (2018). "Huntingtin protein: A new option for fixing the Huntington's disease countdown clock." Neuropharmacology 135: 126-138.

Jimenez-Sanchez, M., et al. (2017). "Huntington's Disease: Mechanisms of Pathogenesis and Therapeutic Strategies." Cold Spring Harb Perspect Med 7(7).

Jodeiri Farshbaf, M. and K. Ghaedi (2017). "Huntington's Disease and Mitochondria." Neurotox Res 32(3): 518-529.

Hutington disease – Medscape eMedicine

https://emedicine.medscape.com/article/1150165-overview Updated 2017.

"Huntington’s Disease.” Alzheimer’s Association – Alzheimer’s & Dementia (2018). Retrieved May 7, 2018, from https://www.alz.org/dementia/huntingtons-disease-symptoms.asp

Huntington Disease.” NIH U.S. National Library of Medicine – Genetics Home Reference (2018). Retrieved May 8, 2018, from https://ghr.nlm.nih.gov/condition/huntington-disease#sourcesforpage

Huntington Disease Information Page.” NIH National Institute of Neurological Disorders and Stroke (2018). Retrieved May 7, 2018, from https://www.ninds.nih.gov/Disorders/All-Disorders/Huntingtons-Disease-Information-Page

Liou, Stephanie. “Complications of Huntington’s Disease.” Huntington’s Outreach Project for Education, at Stanford (2010). Retrieved May 8, 2018, from http://web.stanford.edu/group/hopes/cgi-bin/hopes_test/complications-of-huntingtons-disease/


What Is Huntington’s Disease?” Huntington’s Disease Society of America (2018). Retrieved May 6, 2018, from http://hdsa.org/what-is-hd/

See link to series of Nature articles on Huntington's in RareShare news links. Created by RareshareTeam
Last updated 28 Oct 2018, 05:29 AM

See RareShare news links for article on blood test for Huntington's Disease progression. Created by RareshareTeam
Last updated 23 Oct 2018, 03:02 AM

Visit RareShare's news link page for two recent articles on Huntington's Disease. Created by RareshareTeam
Last updated 25 Jul 2018, 02:34 AM

Posted by RareshareTeam
25 Jul 2018, 02:34 AM

The news link feature can be accessed on the front page after member sign-in or on the main RareShare page under Resources.  Scroll down the list to find articles of interest.

RareShare podcast Created by graychan
Last updated 17 May 2018, 05:03 PM

Posted by graychan
17 May 2018, 05:03 PM

Listen to RareShare's podcast on Rare Diseases Diagnosis:  A Huntington's Disease Patient Shares His Experiences and Advice for Coping with a New Diagnosis.

I can sympothys with angel Created by angee62341
Last updated 3 Feb 2010, 12:43 PM

Posted by angee62341
3 Feb 2010, 12:43 PM

I understand what Angel is going through. It is very frustrating for me also. With Huntingtons Disease, I also have long term memory loss, I am lucky so far in that i still have my short term memory. I am also lucky that I can type but not write. Hope everyone has a wonderful day

Community Podcasts
Title Description Date Link
Receiving a Rare Disease Diagnosis: A Huntington’s Disease Patient Shares His Experience and Advice for Coping with a New Diagnosis (Patient Navigation)

Seth Rotberg, 27, was diagnosed with Huntington’s Disease at age 20 and has since become an advocate for rare disease patients. He tells us about his experience dealing with his own diagnosis, and shares his advice for anyone dealing with a new disease diagnosis, especially young people.

08/17/2018
Community External News Link
Title Date Link
Huntington's Disease: New Therapies on the Horizon for Huntington's Disease - Rare Disease Report 07/10/2018
First Signs of Huntington's Disease Detectable Via a New Blood Test 10/17/2018
Nature Outlook: Huntington's Disease 10/28/2018
Nature Outlook: Huntington's Disease 10/28/2018
Community Resources
Title Description Date Link

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After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

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