How do I know if I have Huntingtons Disease?

Huntington’s disease is a hereditary neurodegenerative condition that is definitively diagnosed through a specific genetic blood test measuring the number of CAG repeats in the HTT gene. If you are concerned about your risk, you should consult a neurologist or a genetic counselor to discuss clinical symptoms, which typically emerge between ages 30 and 50 and include involuntary movements, cognitive changes, and mood disturbances.

What are the early signs of Huntington’s disease?

Recognizing the early signs of Huntington’s disease can be difficult because symptoms often overlap with common stress or other neurological conditions. Early indicators often manifest as subtle changes in coordination, such as clumsiness or "fidgeting" (chorea), as well as psychiatric symptoms like irritability, depression, or apathy. Many people with Huntington’s disease also report difficulty with executive functions, such as planning, organizing, or focusing on complex tasks. It is important to remember that these symptoms are part of a spectrum and vary significantly between individuals.

How is a diagnosis of Huntington’s disease confirmed?

A diagnosis of Huntington’s disease is confirmed via a molecular genetic test that analyzes the HTT gene on chromosome 4. This test counts the number of CAG trinucleotide repeats; individuals with 40 or more repeats will almost certainly develop the condition, while those with 36–39 repeats may or may not show symptoms (reduced penetrance). If you are seeking testing, it is vital to undergo the process at a center of excellence where genetic counseling is provided both before and after the results are delivered, as this helps navigate the profound emotional impact of a Huntington’s disease diagnosis.

When should I see a doctor?

You should schedule an appointment with a neurologist if you observe persistent changes in your motor control, personality, or cognition, especially if you have a known family history of Huntington’s disease. When speaking with your physician, be prepared to share a detailed family history and a list of specific concerns. Consider these points when preparing for your visit:

• Note the age of onset in any affected family members.


• Document specific, recurring motor symptoms like involuntary muscle jerks.


• Describe any recent, unexplained shifts in mood or personality.


• Ask specifically for a referral to a movement disorder specialist or a genetic counselor.

What are the "red flags" that require urgent evaluation?

While Huntington’s disease is a progressive condition rather than an acute one, certain symptoms warrant prompt medical attention to ensure your safety and quality of life. Seek immediate medical evaluation if you experience sudden, severe changes in behavior, significant difficulty swallowing (dysphagia), or dangerous falls due to loss of balance. These issues can often be managed with supportive therapies and should not be ignored.

How can I advocate for myself?

If you feel your concerns regarding Huntington’s disease are being dismissed, do not hesitate to seek a second opinion from a specialist at a university hospital or a center specializing in neurogenetic disorders. You are your own best advocate; keep a journal of your symptoms to provide concrete evidence to your medical team. You are not alone in this journey, as our community at DiseaseMaps.org includes 39 people with Huntington’s disease who have shared their personal experiences and insights.

Next steps

• Consult a neurologist specializing in movement disorders for a clinical assessment.


• Reach out to a genetic counselor to discuss the implications of genetic testing.


• Connect with the Huntington’s Disease Society of America (HDSA) for local support group information.


• Join the community at DiseaseMaps.org to connect with others navigating similar experiences.

Medical Disclaimer: This information is for educational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the advice of your physician or other qualified health provider with any questions regarding a medical condition.

References

• NIH Genetic and Rare Diseases (GARD) Information Center: Huntington Disease.


• Orphanet: Huntington disease (ORPHA:399).


• Online Mendelian Inheritance in Man (OMIM): Huntington Disease (Entry #143100).


• Huntington’s Disease Society of America (HDSA): Understanding HD.