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PubMed This is a summary of 100 peer-reviewed journal articles Updated
Neurology

Understanding Huntington Disease: A Starting Point

At a Glance

Huntington disease is a rare, inherited genetic disorder that causes the progressive breakdown of nerve cells in the brain. It primarily affects movement, cognition, and mood. While currently incurable, symptoms are manageable with medication and a multidisciplinary care team.

Starting a journey with Huntington Disease (HD) often begins with a mix of complex emotions and many questions. Because HD is a rare disease—affecting roughly 5.7 per 100,000 people globally—it is common for local doctors to have limited direct experience with it [1][2]. Understanding the basics of the condition is the first step toward feeling more in control of your care.

What is Huntington Disease?

Huntington Disease is an inherited neurodegenerative disorder, meaning it is a condition passed down through families that causes the gradual breakdown of nerve cells in the brain [3][4].

At its core, HD is genetic and autosomal dominant [3]. This means:

  • Genetic: It is caused by a change (mutation) in a specific gene called HTT [3].
  • Autosomal Dominant: If a parent has the gene, there is a 50% chance each child will inherit it [4].

While the gene itself is certain, the age of onset (when symptoms first appear) can vary widely, even among members of the same family [3]. To learn more about how this works, read about The Genetics of Huntington Disease.

The Three Pillars of Symptoms

Doctors often describe HD through a “triad” of symptoms. While everyone’s experience is different, the disease generally affects three main areas of life:

  1. Motor (Movement): This often includes chorea—involuntary, jerky, or “dance-like” movements [5]. It can also involve a lack of coordination, slowness, or trouble with balance and swallowing [5][6].
  2. Cognitive (Thinking): HD can make it harder to organize tasks, focus, or learn new information [5]. These changes in “executive function” (the brain’s management system) can sometimes appear years before movement issues [6].
  3. Psychiatric (Mood and Behavior): Changes in mood, such as depression, anxiety, or irritability, are very common [7][8]. Apathy (a lack of motivation) or impulsive behavior can also occur [5].

To see how these symptoms evolve over time, visit the Symptoms and Disease Progression page.

Finding Your Footing: Three Stabilizing Facts

If you or a loved one are newly diagnosed or at risk, these facts can provide a foundation:

01

Clinical Trials and the Future of HD Research

Learn about the future of Huntington's disease (HD) research. Understand clinical trials, gene silencing, HTT-lowering therapies, biomarkers, and Enroll-HD.

02

Standard of Care Treatment and Symptom Management

Learn about the standard of care for Huntington disease treatment. Explore VMAT2 inhibitors for chorea, psychiatric symptom management, and care team options.

Validating the Emotional Journey

Learning about a family history of HD or considering a Predictive Genetic Test often triggers a heavy emotional toll. It is normal to feel a significant burden of stress, which can lead to feelings of depression or anxiety [7][8]. Families often deal with “anticipatory grief” or “survivor’s guilt” if they test negative while others test positive [12].

Acknowledging these feelings is a vital part of your health. Many patients find that secondary control coping—which involves accepting the situation and reframing how you look at the future—is strongly linked to better mental well-being [8]. Research is active, and the medical community is more focused than ever on developing “gene-silencing” and other advanced therapies [13][14].

Common questions in this guide

How do you get Huntington disease?
Huntington disease is an inherited genetic condition caused by a mutation in the HTT gene. It is an autosomal dominant disorder, meaning that if one parent has the mutated gene, each child has a 50% chance of inheriting it.
What are the first signs of Huntington disease?
Symptoms often appear in three main areas: movement, thinking, and mood. Early signs can include involuntary jerky movements known as chorea, difficulty focusing or organizing tasks, and mood changes like depression or irritability.
Is there a cure for Huntington disease?
While there is currently no cure for Huntington disease, there are FDA-approved medications and therapies to help manage symptoms. A multidisciplinary medical team can provide treatments specifically designed to improve quality of life, manage chorea, and support mental health.
What does a CAG repeat count mean on my genetic test?
A CAG repeat count is a result from a genetic test that measures the specific size of the HTT gene mutation. Doctors use this number to confirm a diagnosis, and it can help suggest the likely age when symptoms might first appear.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.What is the specific CAG repeat count from my genetic test, and what does it suggest about my likely age of onset?
  2. 2.How much experience do you have in treating Huntington Disease, or should I be referred to a specialized HD Center of Excellence?
  3. 3.Which members of a multidisciplinary team (e.g., neurologist, psychiatrist, physical therapist) should I meet with first?
  4. 4.Are there local support groups or resources for families specifically dealing with the emotional impact of a genetic diagnosis?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (14)
  1. 1

    Neuraxial Analgesia and Anesthesia for Labor and Cesarean Delivery in a Patient with Juvenile Huntington Disease: A Case Report.

    Soloniuk LJ, Jones J, Baker C, et al.

    A&A practice 2025; (19(3)):e01926 doi:10.1213/XAA.0000000000001926.

    PMID: 40019183
  2. 2

    [Huntington's Disease in Balearic Islands Population-Based Registry of Rare Diseases: Prevalence and Mortality during the Period 2010-2013. Spain].

    Cáffaro Rovira M, Salom Castell MM

    Revista espanola de salud publica 2017; (91()).

    PMID: 28206985
  3. 3

    Huntington's Disease: A Report of an Interesting Case and Literature Review.

    Sharma PK, Aram A, Polaka Y, Pandian V

    Cureus 2024; (16(3)):e55443 doi:10.7759/cureus.55443.

    PMID: 38567236
  4. 4

    The HEK293T cells manage overload by the overexpressed full-length Htt variants via proteasome activation.

    Gotmanova NN, Bobik TV, Kriachkov VA, et al.

    Biochimie 2026; (240()):59-75 doi:10.1016/j.biochi.2025.10.014.

    PMID: 41130442
  5. 5

    Improving Mood and Cognitive Symptoms in Huntington's Disease With Cariprazine Treatment.

    Molnar MJ, Molnar V, Fedor M, et al.

    Frontiers in psychiatry 2021; (12()):825532 doi:10.3389/fpsyt.2021.825532.

    PMID: 35222108
  6. 6

    What Huntington's Disease Patients Say About Their Illness: An Online Direct-to-Participant Pilot Study.

    Anderson KE, Arbatti L, Hosamath A, et al.

    Journal of Huntington's disease 2024; (13(2)):237-248 doi:10.3233/JHD-231520.

    PMID: 38701155
  7. 7

    Stress in Huntington's Disease: Characteristics and Correlates in Patients and At-Risk Individuals.

    Snow ALB, Ciriegio AE, Watson KH, et al.

    Journal of Huntington's disease 2024; (13(2)):215-224 doi:10.3233/JHD-231515.

    PMID: 38578897
  8. 8

    Coping with Huntington's Disease in Patients and At-Risk Individuals.

    Snow ALB, Ciriegio AE, Watson KH, et al.

    Journal of Huntington's disease 2024; (13(3)):339-347 doi:10.3233/JHD-240027.

    PMID: 39150832
  9. 9

    Ayurvedic Management of Rare Genetic Condition-Huntington's Chorea: A Case Report.

    Sharma M, Deshmukh S, Thakre T, et al.

    Alternative therapies in health and medicine 2025;.

    PMID: 40662609
  10. 10

    Tetrabenazine: Spotlight on Drug Review.

    Kaur N, Kumar P, Jamwal S, et al.

    Annals of neurosciences 2016; (23(3)):176-185 doi:10.1159/000449184.

    PMID: 27721587
  11. 11

    From Pathogenesis to Therapeutics: A Review of 150 Years of Huntington's Disease Research.

    Jiang A, Handley RR, Lehnert K, Snell RG

    International journal of molecular sciences 2023; (24(16)) doi:10.3390/ijms241613021.

    PMID: 37629202
  12. 12

    Psychosocial impact on individuals who received negative test results from predictive testing for Huntington's disease: An exploratory qualitative study.

    Osawa H, Matsukawa M, Yoshida A, et al.

    Journal of genetic counseling 2025; (34(2)):e1981 doi:10.1002/jgc4.1981.

    PMID: 39367595
  13. 13

    DRPLA: understanding the natural history and developing biomarkers to accelerate therapeutic trials in a globally rare repeat expansion disorder.

    Chaudhry A, Anthanasiou-Fragkouli A, Houlden H

    Journal of neurology 2021; (268(8)):3031-3041 doi:10.1007/s00415-020-10218-6.

    PMID: 33106889
  14. 14

    Huntington's Disease Regulatory Science Consortium: Accelerating Medical Product Development.

    Turner EC, Gantman EC, Sampaio C, Sivakumaran S

    Journal of Huntington's disease 2022; (11(2)):97-104 doi:10.3233/JHD-220533.

    PMID: 35466945

This page provides an introductory overview of Huntington disease for educational purposes only and does not replace professional medical advice. Always consult a neurologist or HD specialist for diagnosis and personalized care.

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