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CNI Movement Disorders Center
Education & Information
Facts about Huntington's Disease
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Huntington's Research at CNI
The CNI Movement Disorders Center works with the Huntington Study Group to better-understand the pathogenesis of the disease and develop treatments which may slow progression. Learn more about our research into HD now.
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Huntington’s disease (HD) otherwise known as Huntington's chorea is named for the American physician who initially described the condition in 1872.
Huntington's disease (HD) is a hereditary progressive neurodegenerative disorder characterized by the development of emotional, behavioral and psychiatric abnormalities; loss of previously acquired intellectual or cognitive functioning; and movement abnormalities (motor disturbances).
Cause
HD is transmitted within families as an autosomal dominant trait. That means each child of an affected parent has a 50% chance of inheriting the gene that causes HD and developing symptoms of the disease during their life. If a child does not inherit the disease-causing gene, the child will not develop symptoms of HD nor will that child transmit the gene that causes HD to future generations. HD affects males and females with equal frequency. The progressive loss of nervous system function associated with HD results from loss of neurons in certain areas of the brain, including the basal ganglia and cerebral cortex.
Signs and Symptoms
The classic signs of HD include the development of chorea which is an involuntary, rapid, irregular, jerky movements that may affect the face, arms, legs or trunk. Chorea is explained as a dance like movement. There is a gradual loss of thought processing and dementia. Individuals with HD also have loss of memory, difficulty with abstract thinking and judgment impairment, agitation; and personality changes. Symptoms typically become evident during the fourth or fifth decades of life, but can vary from early childhood until later in adult life.
Symptoms of HD vary from patient to patient. Age of onset and progression differs from patient to patient and vary greatly within families. Early onset is usually associated with increased severity as well as more rapid disease progression.
Presymptomatic genetic testing is available for individuals at risk for HD who do not have symptoms. Centers of Excellence provide a team approach including a neurologist, social worker, psychologist or psychiatrist and genetic counselor. HDSA recommends a series of 4 visits for patients who would like presymptomatic testing.
- Initial telephone contact/pre-screening interview.
- First session for genetic counseling, neurological evaluation.
- Second session for lab draw for genetic test.
- Third session for disclosure of results.
- Fourth session for post-test counseling
Counseling is an important aspect to ensure the person seeking genetic testing understands the implications of the test and is prepared to know the results.
Confirmatory testing may be offered to an individual with clear symptoms of HD and a documented family history. However, a clinical neurological examination is still regarded as the definitive form of diagnosis.
HD does not have a cure and no treatment is available to slow the progression.
Treatment
The treatment of HD patients requires a multidisciplinary team approach including a neurologist, social worker, psychologist and physical, occupational, or speech therapy;
Many medications are available to manage or alleviate behavioral abnormalities such as depression, anxiety, anger outbursts, and obsessive-compulsive behaviors. Other medications are available for the abnormal movements associated with HD. Tetrabenazine has just been FDA approved in the United States for the treatment of chorea. Physical, Occupational and Speech therapy play an important role in the HD patients.
For more information, please visit the following Web sites
Huntington's Disease PowerPower by Dr. Kumar
In May 2010, Dr. Kumar gave a presentation to the Huntington's Disease Denver Metro support group, providing updates on HD research. To view Dr. Kumar's PowerPoint presentation, please click here.
HDSA Center of Excellence Client Satisfaction Survey
The HDSA Center of Excellence program is ten years old and the Huntington's Disease Society of America would like your opinion on what your Center of Excellence does well, where the program can be improved and any suggestions you may have.
Please take a few minutes to answer the survey so we can continue to improve your access to services and add new resources for our families. To access the survey click here.
If you have additional comments that will not fit in the spaces provided, please email Deb Lovecky (Dlovecky@hdsa.org) at HDSA and be sure to include the name of the Center of Excellence you visit with your loved one so we can add your comments, observations and suggestions to the survey results.
This survey is completely anonymous. If you email Deb Lovecky with additional comments, they too will be confidential.
Thank you for your time and assistance in this valuable project.
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