What is Huntington's Disease?
Huntington’s disease (HD) is a rare, inherited disorder of the central nervous system caused by a mutation in the HTT (huntingtin) gene. This mutation involves an abnormal expansion of a DNA sequence known as a CAG repeat. In healthy individuals, the HTT gene produces a protein called huntingtin, which supports normal brain cell (neuron) function. In HD, the expanded CAG repeat leads to the production of a toxic, mutant form of huntingtin that damages and kills neurons over time.
Who is Affected?
HD is passed from parent to child through autosomal dominant inheritance. This means that each child of a parent with HD has a 50% chance of inheriting the disease. A person only needs to inherit one copy of the faulty gene from a parent to develop the disease.
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While the disease can start at any age, most people develop symptoms in their 30s to 50s. Once symptoms begin, HD typically progresses over the course of 10 to 25 years and median life expectancy is 15 to 18 years from symptom onset.
What are the Symptoms?
While symptoms vary from person to person, HD primarily affects the brain and results in abnormal movements, difficulties with speech, swallowing and walking.
Other symptoms include:
Behavioral
Cognitive
Motor
Involuntary movements (chorea), muscle stiffness, poor coordination, difficulty walking, speaking, or swallowing
Difficulty with focus, memory, decision-making, and eventually dementia
Irritability, anxiety, depression,
apathy, mood swings, delusions,
or hallucinations
How Common is Huntington’s Disease?
Men and women are equally likely to inherit the defective gene and develop Huntington's disease. While Huntington’s disease is known to affect approximately 135,000 people worldwide, global prevalence is estimated at 4.88 per 100,000, suggesting many more may be affected.
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The prevalence varies greatly between countries. In North America, South America, North-Western Europe, and Australia, prevalence ranges from 6 to 14 cases per 100,000 people. Prevalence in Asia is much lower, at 1 - 2 cases per 100,000 people.
HD affects approximately
135,000+
people globally
Men and women are equally likely to inherit the defective gene and develope HD
Is There a Treatment?
There is no cure for HD. Some approved therapies can help manage symptoms — such as treatments for involuntary movements (chorea) — but there are no approved drugs that slow or stop disease progression. Research is ongoing, and clinical trials are evaluating therapies aimed at modifying the disease itself.
For More Information
For more information on the study, visit: ClinicalTrials.gov ID NCT06873334
If you or someone you know would like more information about this study please contact
Sky0515trials@SkyhawkTx.com
This website contains information related to general medical conditions and is provided for educational purposes only. It is not intended to replace discussions with a healthcare provider. All decisions regarding patient care must be made with a healthcare provider, considering the unique characteristics of the patient.
The study described here investigates treatments or outcomes that have not received regulatory approval from a health authority. The information presented here is not meant to convey conclusions of safety or effectiveness. There is no guarantee that the outcome of this trial will result in approval by a regulatory authority.