Huntington’s Disease (HD) is a genetic disorder that causes nerve cells in certain areas of the brain to deteriorate, or break down. Eventually, this deterioration causes a variety of symptoms, including:
- Abnormal movements and impaired coordination
- Mood and personality changes
- Problems recalling information and problem-solving
HD is a hereditary disease caused by a mutation in a single gene. As a genetic disorder, HD is passed from one family generation to the next. Each child of an individual with HD has a 50 percent chance of inheriting the HD gene from his or her affected parent, and very occasionally a new mutation can occur without a known family history.
HD symptoms most often develop between the ages of 30-50. Symptoms are mild at first and are often barely noticeable but usually worsen over the course of 15-20 years. Motor, mood and behavior changes are often treatable but can still be difficult for patients and families as they progress.
Abnormal muscular and body movements may cause:
- Sudden jerks or uncontrolled movements of the limbs or trunk
- Facial grimacing
- Continuous need to turn head and shift gaze
- Walking gait that is unsteady or dance-like
- Difficulty completing voluntary tasks like dressing and caring for oneself
- Difficulty with eating and swallowing, which may result in weight loss
- Poor articulation of speech
Gradual deterioration or loss of intellectual abilities and information processing abilities may include:
- Slowed processing or difficulty processing complex information
- Loss of memory
- Loss of ability to think rationally
- Loss of judgment
- Confusion or disorientation
- Trouble with attention and awareness
Mood changes and behavioral issues may include:
- Abrupt mood changes
- Social withdrawal or antisocial behavior
- Irresponsible behavior
- Obsessive-compulsive behavior
- Personality changes
- Psychosis — a severe emotional and behavioral disorder that often interferes with a person's ability to relate to others and to function in daily life
- Paranoia — a mental disorder that involves feelings of being watched, followed or harmed by others
- Hallucinations — the perception of a thing or person that is not present
Ultimately, individuals with HD will be unable to work independently, need assistance with activities of daily living, and will eventually require full-time care.
Diagnosis, Genetic Testing & Counseling
HD is diagnosed with a physical exam conducted by a neurologist, and confirmed with genetic testing. Predictive genetic testing is also available to individuals with a family history of HD who are not yet symptomatic and is conducted by a certified genetic counselor. Our clinic follows guidelines recommended by the Huntington's Disease Society of America to help patients weigh the risks and benefits of genetic testing.
Treatment at UVA's Huntington's Disease Clinic
There's no cure for HD, but there are many pharmaceutical and therapeutic treatments that can help control HD symptoms. At UVA, we focus our care and treatment on patient safety, independence and quality of life.
Specialized Therapeutic Support
Our physical therapist, occupational therapist and speech language pathologist design personalized plans to help reduce motor-and-communication-related HD symptoms. These strategies aim to improve quality of life for those impacted by an HD diagnosis.
Social Work Services
Our social worker provides ongoing support and counseling for patients and family members as they navigate life with HD. We also provide referrals and information on programs and organizations that offer resources for HD families.
At UVA, we routinely share opportunities to participate in research studies, both at UVA and elsewhere, focused on understanding the disease, improving symptom management and ultimately finding a cure for HD.
Content was created using EBSCO’s Health Library. Edits to original content made by Rector and Visitors of the University of Virginia. This information is not a substitute for professional medical advice.