What is Huntington’s disease?
Huntington’s disease is an inherited condition where brain cells gradually lose their ability to work and eventually die. It mainly affects parts of the brain that control voluntary movements and memory.
There are two main types of Huntington’s disease:
- Adult onset: This is the most common form, with symptoms usually starting after age 30.
- Early onset (juvenile Huntington’s disease): This form is very rare and affects children or teenagers.
The disease happens because of a change in a gene passed down from parent to child. If one parent has this gene, each child has a 50% chance of inheriting the disease. Symptoms usually begin in middle adulthood but can appear earlier or later.
Early signs may include small changes in coordination, mood swings or difficulty concentrating. As the disease progresses, people may experience uncontrollable movements, trouble speaking or swallowing, and problems with memory and thinking.
While there is no cure for Huntington’s disease yet, treatments are available to help manage symptoms and improve quality of life.
How common is Huntington’s disease?
Huntington’s disease is rare. It affects about 4 to 7 people per 100,000 worldwide. It is most common in people of European or Caucasian descent, with slightly higher rates in Europe and North America.
The disease is less common in Asia. Since Huntington’s is inherited, it’s more likely to occur in families where someone already has the condition. Each child of a parent with Huntington’s has a 50% chance of inheriting the gene.
Huntington’s disease symptoms
Huntington’s disease causes a variety of symptoms that affect movement, thinking and mental health. These symptoms develop gradually and get worse over time. Knowing what to look for can help with early diagnosis and better management of the disease.
Symptoms of juvenile Huntington’s disease
When Huntington’s disease affects children or teens, it usually progresses faster and looks different than in adults. Symptoms often start with changes in mood, school performance or movement.
Early signs in kids and teens may include:
- Trouble paying attention or staying on task
- A drop in school grades
- Acting out, mood swings or behavior changes
- Stiff muscles that make walking harder
- Small shaking movements (tremors)
- Frequent falls or clumsiness
- Seizures
When to see a doctor
See your doctor if you are concerned that you or a loved one has symptoms of Huntington’s disease. Huntington’s disease can take a long time to diagnose, so the sooner you seek help for your symptoms, the sooner you can find answers.
You should also see your doctor if one of your parents has Huntington’s disease, as that significantly raises your risk. Your doctor can discuss the pros and cons of genetic testing and connect you to a genetic counselor if you decide to proceed.
What causes Huntington’s disease?
Huntington’s disease is caused by a change, or mutation, in a specific gene called the HTT gene. This gene normally makes a protein called huntingtin, which plays a role in brain cell function. In people with Huntington’s disease, the HTT gene has a repeated section of DNA that’s longer than normal. This leads to the production of a harmful version of the huntingtin protein.
Over time, the faulty protein builds up in certain areas of the brain, especially those that control movement, thinking and emotions. As the disease progresses, it causes brain cells to stop working properly and eventually die. This is what leads to the symptoms of Huntington’s disease.
Is Huntington’s disease inherited?
Yes, Huntington’s disease is inherited. It’s passed from parent to child through a change in a single gene. If one parent has the gene, each child has a 50% chance of inheriting it. People who inherit the gene will develop the disease at some point in life, usually in adulthood. The gene mutation doesn’t skip generations.
If Huntington’s runs in your family, a genetic counselor can help you understand your risk and decide if genetic testing is right for you. Testing can give you important information for your health and future planning.
Complications
Huntington’s disease affects your physical, mental and emotional health. In later stages, most people can no longer work or manage daily tasks on their own and need full-time care.
The disease can also lead to serious health problems, some of which can be life-threatening.
Common complications include:
- Heart disease
- Fractures and injuries
- Mental health issues
- Substance misuse
- Swallowing problems
How is Huntington's disease diagnosed?
If you or a loved one shows signs of Huntington’s disease, getting a diagnosis is the first step toward planning care and managing symptoms. Diagnosing the condition involves a combination of medical history, physical and neurological exams, brain imaging and genetic testing. Early symptoms can sometimes be mistaken for other conditions, so a thorough evaluation is important.
Huntington’s disease treatments
There is no cure for Huntington’s disease, but there are many ways to help manage symptoms and support your well-being. Because Huntington’s affects each person differently and changes over time, your healthcare team will work with you to create a treatment plan tailored to your needs. Treatment often includes therapy, medication, counseling and special care to keep you comfortable and safe.
Researchers are studying new ways to treat Huntington’s disease. You or your loved one might qualify for a clinical trial, so ask your doctor about open trials if you’re interested in new or experimental treatments.
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Find care for Huntington’s disease
At Baylor Scott & White, we have multiple locations across North and Central Texas to provide you with access to expert care. Our neurology specialized centers are designed to meet the unique needs of people who have been diagnosed with Huntington’s disease. Whether you're seeking diagnostic testing, treatment options or ongoing support, our teams are here to help you.