What Is Huntington's Disease?
Huntington’s disease (HD) is a genetic brain disease. HD causes the gradual breakdown of nerve cells in the brain. Huntington’s disease is a progressive disorder that gets worse over time.
Most people with HD usually begin developing symptoms between 30-50 years old. Huntington’s disease can also occur in children and young adults. It is known as Juvenile Huntington's Disease. Today, there are approximately 41,000 symptomatic Americans and more than 200,000 at-risk of inheriting the disease.
What Causes Huntington's Disease?
Genes are made up of building blocks called nucleotides. Nucleotides are labeled A,G,C, and T, and form a code. HD is caused by a stretch of the letters CAG in the huntingtin gene. This stretching is known as a CAG repeat expansion. They repeat over and over too many times, making the gene unstable.
Everyone has the huntingtin gene. Only those that inherit the mistake, known as the HD mutation, will develop HD and risk passing it on to their children.
Is Huntington’s Disease Genetic?
Huntington’s disease is genetic. HD is an autosomal dominant disorder. This means that one abnormal gene is enough to cause the disease. You have a 50% chance of inheriting the abnormal gene if you have a parent with Huntington’s disease.
Huntington's Disease Symptoms
Huntington’s disease causes abnormal movements, cognitive problems, and psychiatric symptoms. Which symptoms start first varies from person to person.
Movement Symptoms
-
Slowness of movements
-
Difficulties with fine motor tasks such as holding a cup without dropping it
-
Uncontrolled movements like twitching, jerking, or writhing (chorea)
-
Difficulties performing sequences of movements like getting out of bed or standing up from a chair
Cognitive Symptoms
-
Learning difficulties
-
Difficulty paying attention
-
Problems with memory, planning, and decision making
Psychiatric Symptoms
-
Depression and in severe cases, suicidality
-
Anxiety
-
Aggression
-
Irritability
-
Personality changes
-
Hallucinations or delusions
Find a Neurologist
How is Huntington's Disease Diagnosed?
Huntington’s disease is diagnosed based on your signs and symptoms. It is confirmed with genetic testing.
You will be seen by a movement disorders specialist with expertise in Huntington's disease. You may see a variety of specialists during your appointment:
-
Social work
-
Speech therapy
-
Nursing
-
Our research team
We collaborate closely with your primary care provider, psychiatrist, therapists (including those in physical therapy, occupational therapy, speech therapy, and mental health) to ensure you get the best possible approach to your your care.
We offer low cost, sliding scale predictive genetic testing.
Testing for Huntington's Disease
A genetic test is a blood test that checks for changes in your DNA.
Genetic testing can be done before you show symptoms of HD. This is known as pre-symptomatic testing. You can also test after you develop symptoms. This is called confirmatory testing.
It is recommended that you seek testing in coordination with a team experienced with HD, including a genetic counselor.
Genetic testing is not recommended before the age of 18, as patients under that age cannot consent to the testing and may not understand the implications. However, a child may be tested to confirm a diagnosis of juvenile onset HD.
If your parent or sibling has Huntington’s disease, your provider may suggest you get tested for HD. Knowing you carry the gene responsible for Huntington’s disease can help you prepare and plan for the future.
Are There Prenatal Tests for Huntington's Disease?
If you have a family history of Huntington’s disease, you may worry about passing it on to your children. Talk with your doctor about genetic testing. Pre-genetic diagnostic (PGD) testing can be used with In Vitro Fertilization (IVF) to check if a fertilized egg carries the gene mutation. This can be done without informing the at-risk patient whether or not they have the gene that causes HD.
How is Huntington's Disease Treated?
There is no cure for Huntington’s disease. Treatment options focus on making your symptoms more manageable. Because HD affects your physical, mental, and emotional health, you may need a variety of care:
-
Medications
-
Social work support
-
Speech therapy
-
Occupational therapy
Why Choose University of Utah Health?
As an HDSA Center of Excellence we offer a monthly multidisciplinary clinic for individuals and families affected by Huntington Disease.
We have an ongoing commitment to HD research with participation in ENROLL HD, Generation HD-1, PRIDE HD, NN105, KINECT HD.
We work closely with our local HDSA chapter to offer an education series, support for fundraising efforts, and have hosted a monthly support group.
In our capacity as an HDSA Center of Excellence, we have successfully broadened access to multi-disciplinary clinical care to individuals and families living with HD throughout the Mountain West region, covering the states of Utah, Idaho, Nevada, and Wyoming.
