Benign Hereditary Chorea
What is Benign Hereditary Chorea?
Benign Hereditary Chorea (BHC) is a rare genetic movement disorder that typically presents in infancy or early childhood (2.5-3 years old) with non-progressive chorea—an involuntary, jerky movement affecting various parts of the body. Unlike other types of chorea that worsen over time, BHC tends to remain stable or improve as the individual ages. Although termed "benign" due to its generally non-degenerative course, the condition can still cause motor delays, coordination issues, and sometimes cognitive or behavioral challenges. BHC primarily affects movement, but can also affect the function of other organs, such as the thyroid and lungs.
Synonyms
- Familial essential chorea
- Benign familial chorea
- Non-progressive hereditary chorea
- Childhood-onset chorea due to NKX2-1 mutation
Benign Hereditary Chorea (BHC) is a rare genetic movement disorder that typically presents in infancy or early childhood (2.5-3 years old) with non-progressive chorea—an involuntary, jerky movement affecting various parts of the body. Unlike other types of chorea that worsen over time, BHC tends to remain stable or improve as the individual ages. Although termed "benign" due to its generally non-degenerative course, the condition can still cause motor delays, coordination issues, and sometimes cognitive or behavioral challenges. BHC primarily affects movement, but can also affect the function of other organs, such as the thyroid and lungs.
BHC is extremely rare, with an unknown exact prevalence, but it is estimated to occur in about less than 1 in 500,000 individuals. This may be an underestimation due to difficulties in diagnosis and distinguishing it from other disorders that affect movement. It affects both males and females equally and is most commonly reported in families with a history of similar movement disorders.
| Name | Abbreviation |
|---|---|
| Familial essential chorea | |
| Benign familial chorea | |
| Non-progressive hereditary chorea | |
| Childhood-onset chorea due to NKX2-1 mutation |
BHC is most often caused by mutations in the NKX2-1 gene (also known as TITF1), which plays a critical role in the development of the brain, lungs, and thyroid gland. This gene encodes the homeobox protein Nkx2-1, which is a transcription factor that turns on expression of proteins important for growth during embryonic development. It is especially important for the development of lung structures and thyroid hormones, and its dysfunction can be linked to complications in the lungs and thyroid. BHC follows an autosomal dominant inheritance pattern, meaning only one copy of the mutated NKX2-1 gene is needed to cause the disorder (see Rareshare Guide on Genetic Inheritance). In some cases, spontaneous mutations can occur without a family history.
The hallmark symptom of BHC is chorea, which involves involuntary, rapid, irregular movements of the face, limbs, or trunk. These can be described as jerky motions such as twitching, twisting, or fidgeting. Additional symptoms may include:
-
Delayed motor milestones (e.g., sitting, walking)
-
Hypotonia (low muscle tone)
-
Dystonia (involuntary muscle movements)
-
Gait disturbances or frequent falls
-
Speech difficulties - some children experience vocal tics, others stuttering or slurred speech (dysarthria)
-
Mild intellectual disability or learning challenges (in some cases)
In rare cases: hypothyroidism and respiratory problems, especially when part of brain–lung–thyroid syndrome
Diagnosis is based on clinical evaluation, family history, and exclusion of other neurological or metabolic causes of chorea. A diagnosis of BHC is usually considered when a child presents with early-onset chorea that is non-progressive and there is a positive family history.
-
Genetic Testing: Confirms mutations in the NKX2-1 gene, the most definitive diagnostic method.
-
Neurological Examination: Identifies choreic movements and assesses motor development.
-
Brain Imaging (MRI): Usually normal in BHC but may be used to rule out other conditions.
-
Thyroid Function Tests: To detect associated hypothyroidism.
Pulmonary Evaluation: May be warranted in cases with respiratory symptoms.
There is no cure for BHC, and treatment is generally symptomatic and supportive:
-
Medications: Dopamine-depleting drugs (e.g., tetrabenazine) or dopamine receptor blockers (e.g., haloperidol) may help reduce choreic movements.
-
Physical and Occupational Therapy: Helps improve motor coordination and functional mobility.
-
Speech Therapy: May assist with communication difficulties.
-
Thyroid Hormone Replacement: Given if hypothyroidism is present.
Educational Support: May be needed for children with learning difficulties.
The overall prognosis for BHC is favorable, especially in cases where chorea stabilizes or improves over time. Most individuals maintain normal life expectancy and cognitive function, although some may experience ongoing motor coordination issues or mild intellectual delays. With proper support, many people with BHC lead independent, functional lives. However, the impact on quality of life can vary depending on the severity of symptoms and the presence of associated thyroid or respiratory problems.
Benign Hereditary Chorea community discussions will be posted here.
There are no new discussions. Start one now!!
Clinical Trials
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
- Complete the screening form.
- Review the informed consent.
- Answer the permission and data sharing questions.
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.
Visit sanfordresearch.org/CoRDS to enroll.
Community Leaders
Expert Questions
Ask a question
Community User List
Start a Community
Don't See Your Condition On Rareshare?
Start your own! With a worldwide network of 8,000 users, you won't be the only member of your community for long.
FAQ
Have questions about rareshare?
Visit our Frequently Asked Questions page to find the answers to some of the most commonly asked questions.
Discussion Forum
Benign Hereditary Chorea community discussions will be posted here.
There are no new discussions. Start one now!!
Our Communities
Join Rareshare to meet other people that have been touched by rare diseases. Learn, engage, and grow with our communities.
FIND YOUR COMMUNITY
Our Resources
Our rare disease resources include e-books and podcasts
Our Community Leaders
Community leaders are active users that have been touched by the rare disease that they are a part of. Not only are they there to help facilitate conversations and provide new information that is relevant for the group, but they are there for you and to let you know you have a support system on Rareshare.