Juvenile 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.
Age of Onset
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.
X-linked 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.
Other Names (AKA)
JHD; Huntington disease, juvenile onset; Juvenile onset HD;
Nervous System Diseases
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
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||
|30%-79% of people have these symptoms|
|Abnormal involuntary eye movements||0012547|
|Abnormality of the cerebral white matter||0002500|
Slowness of movements
[ more ]
Wide based walk
[ more ]
Inability to coordinate movements when walking
More active than typical
|Neuronal loss in basal ganglia||0200147|
|5%-29% of people have these symptoms|
Degeneration of cerebellum
|Cerebellar vermis atrophy||0006855|
|Progressive cerebellar ataxia||0002073|
|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 ]
|Neuronal loss in
Loss of brain cells
The mutation in the HTT gene that causes HD involves a
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,
- 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 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.
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.
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.
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.
- MedlinePlus Genetics contains information on Juvenile Huntington disease. This website is maintained by the National Library of Medicine.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- 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.
- 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.
- Fusilli C, Migliore S, Mazza T, et al. Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysis. The Lancet Neurology. November, 2018; 17(11):986-993.
- Warby SC, Graham RK &Hayden MR. Huntington Disease. GeneReviews. December 11, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1305/.
- Huntington disease. Genetics Home Reference. June 2013; https://ghr.nlm.nih.gov/condition/huntington-disease.
- Juvenile Onset HD. Huntington's Disease Society of America. https://hdsa.org/living-with-hd/juvenile-onset-hd/. Accessed 3/11/2016.
- 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.
- Revilla FJ. Huntington Disease. Medscape Reference. April 20, 2017; https://emedicine.medscape.com/article/1150165-overview#showall.
- 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.
- Nance M. The Juvenile HD Handbook: A Guide for Families and Caregivers – Second Edition. The Diagnosis of HD in a Child. 2007; 106. https://www.hdsa.org/images/content/1/1/11702.pdf.
- Nance M, Jones R, Imbriglio S, Gettig B. Juvenile Huntington's Disease. Huntington’s Disease Society of America. 2001; https://hdsa.org/wp-content/uploads/2015/02/juvenile_guide.pdf.
- Huntington Disease. National Institute of Neurological Disorders and Stroke (NINDS). August 2010; https://www.ninds.nih.gov/disorders/huntington/detail_huntington.htm.