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Disease Profile
Huntington disease
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
Childhood
ICD-10
G10
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Huntington's chorea; Huntington's disease; HD
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Huntington disease (HD) is an
There is also a less common, early-onset form of HD which begins in childhood or adolescence. For more information on this form, please visit GARD's juvenile Huntington disease Web page.
Symptoms
Early stage:
- Behavioral disturbances
- Clumsiness
- Moodiness
- Irritability
- Paranoia
- Apathy
- Anxiety
- Hallucinations
- Abnormal eye movements
- Depression
- Impaired ability to detect odors
Middle stage:
Dystonia - Involuntary movements
- Trouble with balance and walking
- Chorea with twisting and writhing motions
- Unsteady gait (style of walking)
- Slow reaction time
- General weakness
- Weight loss
- Speech difficulties
- Stubbornness
Late stage:
- Rigidity (continual tension of the muscles)
- Bradykinesia (difficulty initiating and continuing movements)
- Severe chorea
- Serious weight loss
- Inability to speak
- Inability to walk
- Swallowing problems
- Inability to care for oneself
There is also a less common, early-onset form of HD which begins in childhood or adolescence. For more information on this form, please visit GARD's juvenile Huntington disease Web page.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Chorea | 0002072 | |
Mental deterioration |
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ] |
0001268 |
30%-79% of people have these symptoms | ||
Abnormal libido | 0031845 | |
Abnormality of eye movement |
Abnormal eye movement
Abnormal eye movements
Eye movement abnormalities
Eye movement issue
[ more ] |
0000496 |
Abnormality of the sense of smell |
Abnormal sense of smell
Smell defect
[ more ] |
0004408 |
Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ] |
0000718 |
Agitation | 0000713 | |
Anxiety |
Excessive, persistent worry and fear
|
0000739 |
Apathy |
Lack of feeling, emotion, interest
|
0000741 |
Bradykinesia |
Slow movements
Slowness of movements
[ more ] |
0002067 |
Bradyphrenia |
Slowness of thought
|
0031843 |
Clumsiness | 0002312 | |
Delusions | 0000746 | |
Depressivity |
Depression
|
0000716 |
Difficulty walking |
Difficulty in walking
|
0002355 |
Disinhibition | 0000734 | |
Dystonia | 0001332 | |
Gait imbalance |
Abnormality of balance
Abnormality of equilibrium
Imbalanced walk
[ more ] |
0002141 |
Generalized muscle weakness | 0003324 | |
Hallucinations |
Hallucination
Sensory hallucination
[ more ] |
0000738 |
Hostility | 0031473 | |
Hypokinesia |
Decreased muscle movement
Decreased spontaneous movement
Decreased spontaneous movements
[ more ] |
0002375 |
Irritability |
Irritable
|
0000737 |
Memory impairment |
Forgetfulness
Memory loss
Memory problems
Poor memory
[ more ] |
0002354 |
Myoclonus | 0001336 | |
Obsessive-compulsive behavior |
Obsessive compulsive behavior
|
0000722 |
Poor fine motor coordination | 0007010 | |
0001250 | ||
Speech articulation difficulties | 0009088 | |
Staring gaze | 0025401 | |
Weight loss | 0001824 | |
5%-29% of people have these symptoms | ||
Abnormal circulating cholesterol concentration |
Abnormality of cholesterol metabolism
|
0003107 |
Abnormality of the cerebral white matter | 0002500 | |
Alcoholism | 0030955 | |
Babinski sign | 0003487 | |
Caudate atrophy | 0002340 | |
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
Choking episodes | 0030842 | |
Clonus | 0002169 | |
Decreased body mass index | 0045082 | |
Degeneration of the striatum | 0040140 | |
Excessive daytime somnolence |
Excessive daytime sleepiness
More than typical sleepiness during day
[ more ] |
0001262 |
Impaired visuospatial constructive cognition | 0010794 | |
Inability to walk | 0002540 | |
Insomnia |
Difficulty staying or falling asleep
|
0100785 |
Mutism |
Inability to speak
Muteness
[ more ] |
0002300 |
Oral-pharyngeal |
0200136 | |
Polyphagia |
Voracious appetite
|
0002591 |
Rigidity |
Muscle rigidity
|
0002063 |
Suicidal ideation | 0031589 | |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
Dementia, progressive
Progressive dementia
[ more ] |
0000726 | |
Gait |
Inability to coordinate movements when walking
|
0002066 |
Gliosis | 0002171 | |
Hyperreflexia |
Increased reflexes
|
0001347 |
Neuronal loss in |
Loss of brain cells
|
0002529 |
Personality changes |
Personality change
|
0000751 |
Cause
The HTT gene mutation that causes HD involves a
Diagnosis
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
- The Division of Neurogenetics at the University of Washington is a tertiary specialty that provides clinical services to adults in the general public as well as training. They have created a booklet entitled, "Huntington Disease: Making an Informed Choice, that can be downloaded at no charge.
- Orphanet lists international laboratories offering diagnostic testing for this condition.
Treatment
Current treatment strategies involve the use of various medications to treat specific symptoms such as abnormal movements and behaviors. Depression and suicide are more common among affected people, so caregivers should monitor for associated symptoms and seek help if necessary. As symptoms of the disease worsen, affected people need more assistance, supervision, and care.[3]
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Deutetrabenazine(Brand name: Austedo) Manufactured by Teva Branded Pharmaceutical Products R&D, Inc.
FDA-approved indication: Treatment of chorea associated with Huntington’s disease.
National Library of Medicine Drug Information Portal - Tetrabenazine(Brand name: Xenazine®) Manufactured by Lundbeck Inc.
FDA-approved indication: Treatment of chorea associated with Huntington's disease
National Library of Medicine Drug Information Portal
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnoses include other causes of chorea including general internal disorders or iatrogenic disorders. Phenocopies (clinically diagnosed cases of HD without the genetic mutation) are observed.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
CHDI Foundation
350 Seventh Ave, Suite 200
New York, NY 10001
Telephone: 212-239-9300
Fax: 212-239-2101
E-mail: [email protected]
Website: https://chdifoundation.org -
Hereditary Disease Foundation
601 West 168th Street
Suite 54
New York, NY 10032
Telephone: 212-928-2172
Fax: 212-928-2172
E-mail: [email protected]
Website: https://www.hdfoundation.org -
Huntington Society of Canada
151 Frederick St, Suite 400
Kitchner, Ontario, Intl N2H 2M2
Canada
Toll-free: 800-998-7398
Telephone: 519-749-7063
Fax: (519) 749-8965
E-mail: [email protected]/
Website: https://www.huntingtonsociety.ca/ -
Huntington's Disease Society of America
505 Eighth Ave, Suite 902
New York, NY 10018
Toll-free: (800) 345-HDSA (4372)
Telephone: (212) 242-1968
E-mail: [email protected]
Website: https://www.hdsa.org/ -
Huntington's Disease Youth Organization (HDYO)
PO Box #272185
Boca Raton, FL 33486
E-mail: [email protected]
Website: https://en.hdyo.org/ -
International Huntington Association
Callunahof 8
Harfsen, Intl 7217 ST
United Kingdom
Telephone: 31-573-431595
E-mail: [email protected]
Website: https://www.huntington-disease.org -
International Parkinson and Movement Disorder Society
555 East Wells Street, Suite 1100
Milwaukee, WI 53202-3823
Telephone: +1-414-276-2145
Fax: +1-414-276-3349
E-mail: [email protected]
Website: https://www.movementdisorders.org/ -
Parkinson & Movement Disorder Alliance (PMD Alliance)
PO Box 36233
Tucson, AZ 85704
Toll-free: 1-800-256-0966
E-mail: [email protected]
Website: https://www.pmdalliance.org/
Social Networking Websites
- Visit the following Facebook groups related to Huntington disease:
Huntington's Disease Youth Organization Hangout
HDYO (Huntington's Disease Youth Organisation)
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Huntington disease. This website is maintained by the National Library of Medicine.
- The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Huntington disease. Click on the link to view a sample search on this topic.
References
- Huntington disease. Genetics Home Reference. June, 2013; https://ghr.nlm.nih.gov/condition/huntington-disease.
- Simon C Warby, Rona K Graham, and Michael R Hayden. Huntington Disease. GeneReviews. December 11, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1305/.
- Huntington disease. MedlinePlus. May 28, 2013; https://www.nlm.nih.gov/medlineplus/ency/article/000770.htm.
- Idan Sharon. Huntington Disease Dementia. Medscape Reference. April 18, 2014; https://emedicine.medscape.com/article/289706-overview.
- Fredy J Revilla. Huntington Disease. Medscape Reference. July 9, 2015; https://emedicine.medscape.com/article/1150165-overview.
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