National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Juvenile Huntington disease


Other Names:
JHD; Huntington disease, juvenile onset; Juvenile onset HD; JHD; Huntington disease, juvenile onset; Juvenile onset HD; Juvenile Huntington chorea See More
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Juvenile Huntington disease (HD) is a less common, early-onset form of Huntington disease that begins in childhood or adolescence. It is a progressive disorder that causes the breakdown of brain cells in certain areas of the brain. This results in uncontrolled movements, loss of intellectual abilities, and emotional disturbances. Juvenile HD is defined by the onset of symptoms before age 20 years and accounts for 5-10% of all HD cases. It is inherited in an autosomal dominant pattern and is caused by a type of mutation called a trinucleotide repeat, in the HTT gene. Most often, children with juvenile HD inherit the mutation repeat from their fathers, although on occasion they inherit it from their mothers.[1][2] Juvenile Huntington disease has a rapid disease progression once symptoms present. There currently is no cure. Treatment is supportive and focused on increasing quality of life.[3] Most people with juvenile HD do not survive more than 10 to 15 years after symptoms begin.[2]
Last updated: 3/11/2016
Signs and symptoms of juvenile Huntington disease (HD) begin in childhood or adolescence. Juvenile HD, like adult-onset HD, causes loss of thinking abilities, personality changes, impaired coordination, and emotional problems. Children and adolescents with juvenile HD often have a rapid decline in school performance as their ability to think and reason is weakened. Other common symptoms include dystonia, tremors, muscle twitching (myoclonus), stiffness of the leg muscles, clumsiness, slurred speech, and swallowing problems. Experiencing all of these symptoms can lead to feelings of anger, frustration, sadness, and fear, and may also lead to aggressive behavior. In some cases, behavior problems are the first symptom in a teenager with juvenile HD. Unlike in people with adult-onset HD, seizures are common (especially in children who have symptoms before age 10), and chorea may be only mild or not present at all. The symptoms in people with juvenile HD generally worsen more quickly than in those with adult-onset HD, often leading to loss of life within 10 to 15 years after symptoms begin.[2][3][4][5][6]
Last updated: 1/11/2018

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.

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Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Abnormal involuntary eye movements 0012547
Abnormality of the cerebral white matter 0002500
Bradykinesia
Slow movements
Slowness of movements
[ more ] 		0002067
Broad-based gait
Wide based walk
0002136
Chorea 0002072
Dementia
Dementia, progressive
Progressive dementia
[ more ] 		0000726
Depressivity
Depression
0000716
Dystonia 0001332
Gait ataxia
Inability to coordinate movements when walking
0002066
Hyperactivity
More active than typical
0000752
Hyperreflexia
Increased reflexes
0001347
Irritability
Irritable
0000737
Neuronal loss in basal ganglia 0200147
Oral motor hypotonia 0030190
Rigidity
Muscle rigidity
0002063
Seizure 0001250
Weight loss 0001824
5%-29% of people have these symptoms
Cerebellar atrophy
Degeneration of cerebellum
0001272
Cerebellar vermis atrophy 0006855
Myoclonus 0001336
Progressive cerebellar ataxia 0002073
Ventriculomegaly 0002119
Percent of people who have these symptoms is not available through HPO
Abnormality of eye movement
Abnormal eye movement
Abnormal eye movements
Eye movement abnormalities
Eye movement issue
[ more ] 		0000496
Autosomal dominant inheritance 0000006
Gliosis 0002171
Neuronal loss in central nervous system
Loss of brain cells
0002529
Personality changes
Personality change
0000751
Showing of 27 |
Last updated: 7/1/2020
Juvenile HD, like adult-onset HD, is caused by mutations in the HTT gene. This gene gives the body instructions for making a protein called huntingtin, which is thought to be important for nerve cells (neurons) in the brain. When the huntingtin protein does not function properly, it is thought to cause the death of neurons in certain areas of the brain, causing the symptoms of juvenile HD.[2]

The mutation in the HTT gene that causes HD 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 normally appear multiple times in a row. In people without HD, the CAG segment is repeated 10 to 35 times within the gene.[2] In people with juvenile HD, the CAG segment is repeated more than 60 times.[1]
Last updated: 3/11/2016
Juvenile HD is inherited in an autosomal dominant manner, which means that 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. As the altered HTT gene is passed from one generation to the next, the size of the CAG trinucleotide repeat responsible for HD often increases in size. A larger number of repeats is usually associated with an earlier onset of signs and symptoms. This phenomenon is known as anticipation. Most often, children with juvenile HD inherit the expanded CAG trinucleotide repeat from their father, although on occasion they inherit it from their mother.[2]
Last updated: 3/11/2016
Juvenile HD is diagnosed based on evaluation of symptoms, the family history, and genetic test results - ideally by a pediatric neurologist. Neurological symptoms may need to be evaluated over several doctor appointments. No one symptom or group of symptoms is necessary for the diagnosis, but most children with juvenile HD have several symptoms by the time they are evaluated. Parents of children being evaluated may fear that their child's symptoms are due to juvenile HD, but it is important to remember that children can have developmental or neurological disorders that are unrelated to HD.[6][7]

In most cases, a child or teenager with juvenile HD has a parent with HD. However in some cases, the family history "appears" negative. This may be the case if a parent has died before symptoms began, if a parent has not yet been diagnosed, or if the father is not the biological father (non-paternity). If the family history is truly negative, other causes for the child's symptoms may be explored. If the family history is positive or the physician suspects the disease is present, genetic testing can be ordered to confirm or rule out the diagnosis of HD.[6][7]
Last updated: 1/16/2018

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.
Currently there is no cure for juvenile HD, and there is no way to slow or stop the progression of the disease. Treatment therefore aims to relieve symptoms and increase quality of life. A number of medications are available to help control or ease muscle stiffness, dystonia, and chorea. Physical and occupational therapy may also be helpful for temporarily easing these symptoms, developing strategies for moving around, and preventing falls. Medications are also available to help with seizures, as well as behavioral or psychiatric problems such as attention deficit or depression. Unfortunately, there are no medications known to improve thinking ability (cognitive function) in people with HD.

The family of a child with juvenile HD should meet with school representatives to develop an Individual Education Plan (IEP), which should be reviewed frequently as the disease progresses.
Last updated: 1/16/2018

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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 of JHD are young-onset type 2 spinocerebellar ataxia (SCA2: 12q) with chorea, dystonia, and dementia, and dentatorubral pallidoluysian atrophy (DRPLA: 12p) with chorea and myoclonic epilepsy, but also SCA3 (14q) with rigidity, ataxia, and dystonia and SCA17 (6q) with psychiatric features and dementia (see these terms). Other causes of chorea including general internal disorders or iatrogenic drug-induced disorders must also be considered. Sydenham chorea and post-streptococcal chorea are is still present in many parts of the world.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Juvenile Huntington disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The Huntington Study Group (HSG) is a non-profit group of clinical investigators from medical centers in the United States, Canada, Europe, Australia, New Zealand and South America, experienced in the care of Huntington patients and dedicated to clinical research of Huntington disease (HD).  Click on the link to learn more about research trials that are currently underway.

Patient Registry

  • The National Research Roster for Huntington Disease Patients and Families (hdRoster) was established in 1979 at Indiana University. Funded by the National Institute of Neurological Disorders and Stroke, a branch of the National Institutes of Health, the Roster computerizes the names of families, including information about the history of HD in the family (family trees) and other related data. This information identifies HD patients and families who are interested in participating in research projects.

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

Social Networking Websites

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

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

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 Juvenile Huntington disease. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Warby SC, Graham RK &Hayden MR. Huntington Disease. GeneReviews. December 11, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1305/.
  2. Huntington disease. Genetics Home Reference. June 2013; http://ghr.nlm.nih.gov/condition/huntington-disease.
  3. Juvenile Onset HD. Huntington's Disease Society of America. http://hdsa.org/living-with-hd/juvenile-onset-hd/. Accessed 3/11/2016.
  4. Huntington's Disease: Hope Through Research. National Institute of Neurological Disorders and Stroke (NINDS). https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Hope-Through-Research/Huntingtons-Disease-Hope-Through. Accessed 1/11/2018.
  5. Revilla FJ. Huntington Disease. Medscape Reference. April 20, 2017; https://emedicine.medscape.com/article/1150165-overview#showall.
  6. What is Juvenile Huntington Disease?. Huntington Society of Canada. https://www.huntingtonsociety.ca/learn-about-hd/what-is-juvenile-huntington-disease/. Accessed 1/12/2018.
  7. Nance M. The Juvenile HD Handbook: A Guide for Families and Caregivers – Second Edition. The Diagnosis of HD in a Child. 2007; 106. http://www.hdsa.org/images/content/1/1/11702.pdf.
  8. Nance M, Jones R, Imbriglio S, Gettig B. Juvenile Huntington's Disease. Huntington’s Disease Society of America. 2001; http://hdsa.org/wp-content/uploads/2015/02/juvenile_guide.pdf.
  9. Huntington Disease. National Institute of Neurological Disorders and Stroke (NINDS). August 2010; http://www.ninds.nih.gov/disorders/huntington/detail_huntington.htm.