What is Huntingon's Disease?
What is Huntingon's Disease?Huntington’s disease is a hereditary degenerative brain disease that leads to uncontrolled movements, intellectual and cognitive decline, and emotional problems. Someone with a parent who has Huntington’s disease has a 50 percent chance of inheriting the gene for the disease.
NewYork-Presbyterian is a world leader in Huntington’s disease research and care. Doctors at the Huntington’s Disease Center of Excellence of Columbia University offer genetic counseling and testing services for individuals with a family history of Huntington’s, as well as comprehensive care and support for those with the disease and their families.
Stages of Huntington’s Disease
StagesThere are three stages of Huntington’s disease:
- Early stage. Patients may begin to notice changes in their movements as early symptoms but can still go about their everyday activities.
- Middle stage. Huntington’s disease may start to impair movements enough to cause trouble with day-to-day activities, and patients may require assistance with some of them. Involuntary movements in multiple areas of the body (“chorea”) may become more severe.
- Late stage. At this stage, patients may be aware of the daily activities that need to be done but not be able to do them alone. They may be unable to live independently and may require help from family members or other caregivers. They are often nonverbal and restricted to the bed.
Signs & Symptoms of Huntington's Disease
SymptomsThe signs and symptoms of Huntington’s disease may vary from person to person.
- Physical symptoms include slower movements, lack of coordination, and difficulty performing sequences of movements or sustaining a movement. Chorea may first affect the fingers, hands, face, and eventually both arms and legs, as well as the trunk. There may also be hand clenching, excessive knee bending, and foot twisting. Older patients may have more gait impairment.
- Cognitive effects may include difficulty paying attention and trouble thinking through the steps of an activity. It may be challenging to make decisions and learn new things.
- Behavioral and psychological symptoms may include personality changes, apathy, mood swings, irritability, impulsivity, and depression. Suicide ideation also common.
Signs & Symptoms of Juvenile Huntington’s Disease
Juvenile Huntington’s disease affects children and teens. Symptoms may include:
- Personality and behavior changes
- Coordination problems
- Speech difficulties
- Difficulty learning
- Leg stiffness
- Slow movements
- Seizures
- Rigidity
Chorea is uncommon in juvenile Huntington’s disease. NewYork-Presbyterian’s pediatric neurology teams care for children and adolescents with Huntington’s disease.
More to Explore
What Causes Huntington's Disease?
CausesHuntington’s disease is an inherited neurologic disease passed down in families. It is caused by a genetic mutation in a gene called huntingtin (HTT), which is autosomal dominant. This means that someone only needs to inherit one copy of the altered HTT gene to develop Huntington’s disease. Children with a parent with Huntington’s disease have a 50/50 chance of inheriting the gene mutation.
The mutated gene has multiple copies of the errant code that usually makes the huntingtin protein. The longer the code, the earlier the age of onset of the disease. The mutation results in an abnormally long huntingtin protein that causes brain damage, resulting in Huntington’s disease symptoms.
Complications
ComplicationsAs Huntington’s disease progresses, it may cause complications associated with impaired muscle and cognitive function. In the very late stage of the disease, for example, problems with swallowing can lead to aspiration pneumonia, an infection caused by inhaling food. Patients may also experience extreme fluctuations in body temperature and blood pressure. Most people with Huntington’s disease die 10 to 20 years after symptoms begin.
Huntington’s Disease Prevention
PreventionThere is no way to prevent Huntington’s disease if you have inherited the gene mutation. However, if your family has Huntington’s disease, you can undergo genetic counseling and testing to see if you have the mutation. For family planning, pregenetic diagnostic testing can be performed with in vitro fertilization to ensure that any implanted fertilized eggs do not contain the abnormal gene.
The choice to undergo genetic testing is a highly personal one. Our Huntington’s disease testing team includes a genetic counselor, neurologists, psychiatrists, and other mental health specialists, a social worker, and a medical geneticist who can help you with this decision and, if you choose to test, explain the implications of your results.
Trust NewYork-Presbyterian for Huntington’s Disease Care
Huntington’s disease is named for George Huntington, a graduate of the College of Physicians and Surgeons at Columbia University in the 1870s, who published the first detailed clinical description of the ’disease’s progression.
In 1984, Columbia University researchers began a large-scale study of a Venezuelan community where the disease is prevalent. The results of this study formed the foundation of an international collaboration, which led to identifying the gene that causes ’Huntington’s in 1993.
When you come to NewYork-Presbyterian for Huntington’s disease care, you benefit from the experience and expertise of pioneers in the field. Make an appointment for a consultation.