$Unique_ID{BRK03832} $Pretitle{} $Title{Huntington's Disease} $Subject{Huntington's Disease Chronic Progressive Chorea Degenerative Chorea HD Hereditary Chorea Hereditary Chronic Progressive Chorea Huntington's Chorea Very Early Onset Huntington's Disease (VEOHD) Woody Guthrie's Disease Hallervorden-Spatz Disease Olivopontocerebellar Atrophy (OPCA) Syndenham's Chorea Wilson's Disease Tourette Syndrome } $Volume{} $Log{} Copyright (C) 1984, 1985, 1986, 1987, 1988, 1989, 1990, 1991, 1992, 1993 National Organization for Rare Disorders, Inc. 18: Huntington's Disease ** IMPORTANT ** It is possible that the main title of the article (Huntington's Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Chronic Progressive Chorea Degenerative Chorea HD Hereditary Chorea Hereditary Chronic Progressive Chorea Huntington's Chorea Very Early Onset Huntington's Disease (VEOHD) Woody Guthrie's Disease Information on the following diseases can be found in the Related Disorders section of this report: Hallervorden-Spatz Disease Olivopontocerebellar Atrophy (OPCA) Syndenham's Chorea Wilson's Disease Tourette Syndrome General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Huntington's Disease is an inherited progressively degenerative disorder of the nervous system. This disorder is characterized by involuntary muscle movements (chorea) and the loss of cognitive abilities (dementia). Symptoms Huntington's Disease is characterized by rapid uncontrollable muscle movements such as tics or muscle jerks (choreiform movements or chorea). This disorder causes a loss of coordination and personality changes. As the disease progresses, the ability to speak may be impaired, memory may fade and the involuntary jerky muscle movements (chorea) become more severe. Huntington's Disease runs a 10 to 25 year progressive course. As the disorder progresses, the chorea may subside and there may be an absence of movement (akinesia). Dementia gradually develops. Patients with Huntington's Disease are at high risk of developing pneumonia as a result of being bedridden and undernourished. There are powerful diagnostic tools available to aid in the diagnosis of Huntington's Disease. These include: magnetic resonance imaging (MRI); CT scan or computerized tomography (an advanced X-ray technique showing detailed cross sections of the brain); EEG or electroencephalograph (an instrument that records electrical activity of the brain); and neuropsychological and/or genetic tests. Causes Huntington's Disease is inherited as an autosomal dominant trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Scientific research suggests that when the Huntington's Disease gene is inherited from the mother (maternal inheritance), the first symptoms of this disease may be delayed past the age of fifty in many cases. The evidence also suggests that when the Huntington's Disease gene is inherited from the father (paternal inheritance), symptoms seem to begin at an earlier age. The gene that causes Huntington's Disease is located on chromosome 4. Although scientists have not yet found the exact gene that causes Huntington's Disease, they have identified a "chromosome marker" which makes genetic testing possible. Affected Population Huntington's Disease affects approximately 1 in 10,000 people in the United States. An estimated 15,000 to 25,000 Americans have Huntington's Disease and another 150,000 people may be are at risk for the disease. This disease occurs equally in males and females, and is most common in Caucasian Americans. A very rare childhood form of Huntington's Disease accounts for approximately 10 percent of all cases. This form of the disorder may occur in children as young as 2 years of age. Related Disorders Symptoms of the following disorders can be similar to those of Huntington's Disease. Comparisons may be useful for a differential diagnosis: Hallervorden-Spatz Disease is a rare progressive disorder that affects muscle movement. It is associated with the degeneration of the nervous system. Hallervorden-Spatz Disease is characterized by uncontrolled muscle movements (dystonia), muscular rigidity, and the loss of cognitive abilities (dementia). The symptoms of this disease typically begin during childhood, although occasionally the disease begins in adulthood. Approximately one- third of people with Hallervorden-Spatz Disease experience sudden jerky muscle movements. Other less frequent symptoms may include joint pain (dysarthria), mental retardation, facial grimacing, impaired speech (dysphasia), and impaired vision. (For more information on this disorder, choose "Hallervorden-Spatz" as your search term in the Rare Disease Database). Olivopontocerebellar Atrophy is a group of rare inherited disorders that are characterized by the progressive loss of the cerebellar cortex and other brain tissue. Five different types of Olivopontocerebellar Atrophy have been identified. The symptoms vary widely depending on the type of Olivopontocerebellar Atrophy present. Generally this disorder is characterized by an impaired ability to coordinate muscle movement, tremors, involuntary jerky muscle movements, impaired speech (dysphasia), loss of cognitive abilities and mental deterioration. A wide variety in severity and age of onset may be found in all types of Olivopontocerebellar Atrophy. (For more information on this disorder, choose "Olivopontocerebellar Atrophy" as your search term in the Rare Disease Database). Sydenham's Chorea is a disorder of the nervous system that begins abruptly after a streptococcal infection such as strep throat or rheumatic fever. This disorder usually affects young children and adolescents. Syndenham's Chorea is characterized by rapid, involuntary, non-repetitive muscle movements that may gradually become more severe and frequent. The muscles of the arms and legs are usually most affected. Speech may also be impaired. Other common symptoms may include clumsiness and facial grimacing. Chorea-like muscle movements tend to disappear with sleep. This disorder usually subsides in 3 to 6 months with no permanent neurological or muscle damage. (For more information on this disorder, choose "Syndenham" as your search term in the Rare Disease Database). Wilson's Disease is a rare inherited disorder that affects the liver, eyes and neuromuscular system. Symptoms develop due to the excessive accumulation of copper in body tissues, particularly the liver, brain and eyes. Early diagnosis and treatment of Wilson's Disease may prevent serious long-term disabilities. Neuromuscular symptoms of Wilson's Disease generally appear between the ages of 12 and 32 years. These symptoms may include drooling, joint pain (dysarthria), impaired speech (dysphasia), lack of muscle coordination, tremors, involuntary jerky muscle movements, muscle rigidity and double vision. Other late symptoms of Wilson's Disease may include a decrease in cognitive abilities, behavioral changes, depression and other psychiatric disturbances. (For more information on this disorder, choose "Wilson" as your search term in the Rare Disease Database). Tourette Syndrome is a neurological movement disorder that usually first appears between the ages of 2 to 16 years. Initial symptoms are often rapid eye blinking or facial grimaces, but many parts of the body can be affected. Symptoms wax and wane, with new symptoms replacing old ones that have disappeared. Tourette Syndrome is not progressive nor degenerative, and patients live a normal life span. Muscle and vocal tics characterize this disorder. (For more information on this disorder, choose "Tourette" as your search term in the Rare Disease Database.) Therapies: Standard Treatment for Huntington's Disease is symptomatic and supportive. There are some treatments that may alleviate various symptoms temporarily. Phenothiazines and other neuroleptic drugs are marginally effective for the treatment of some behavioral symptoms. Special high calorie food preparations can help the patient to maintain weight and avoid choking during the later stages of Huntington's Disease. DNA linkage analysis is a method of genetic testing that is used to determine whether a person is carrying a gene for a specific disorder. This test is now being widely used at genetic clinics for Huntington's Disease. People who have relatives with Huntington's Disease may be tested with DNA linkage analysis for the Huntington's Disease chromosome marker. This test is 99 percent accurate when enough family members are tested. Therapies: Investigational Several drugs are under investigation for possible use in the treatment of Huntington's Disease. The orphan drug cannabidiol is currently in clinical trials to test its effectiveness as a possible treatment for Huntington's Disease. Interested patients should have their physician contact: Paul F. Consroe, Ph.D. Department of Pharmacology & Toxicology College of Pharmacology University of Arizona Tucson, AZ 85721 Another experimental drug, MK-801, is being tested to determine whether it can block the effects of quinolinic acid. Quinolinic acid is thought to damage brain cells (neurons) in people with Huntington's Disease. The drug idebenone (AVAN) is being used in Japan to treat patients with cognitive problems resulting from strokes. This drug appears to prevent brain cell degeneration. In the United States idebenone is being tested on a small number of people with Huntington's Disease to determine its possible therapeutic value. Interested patients should have their physicians contact: Huntington's Disease Center Johns Hopkins University School of Medicine Drug Study Project 600 N. Wolfe St. Baltimore, MD 21287-7281 (301) 955-2398 Drs. Allen Rubin at the School of Medicine and Dentistry of New Jersey and Ira Shoulson at the University of Rochester, NY are testing the drug Prozac for its possible value in the treatment of Huntington's Disease. Both studies are restricted to those people in early stages of Huntington's Disease and involve restrictions on the prescribed medications that are taken by the patients. Eligible patients who would like to participate in this study, may have their physician contact one of the following: Robert Wood Johnson Medical School Dr. Allen J. Rubin, Asst. Prof. of Neurology Camden, NJ (609) 751-9047 University of Rochester Charlyne Miller, RN, MS, Nurse Coordinator 601 Elmwood Ave. P.O. Box 673 Rochester, NY 14642 (716) 275-5130 This disease entry is based upon medical information available through March 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Huntington's Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Huntington's Disease Society of America 140 W. 22nd Street, 6th Floor New York, NY 10011 (212) 242-1968 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 The Hereditary Disease Foundation 606 Wilshire Blvd., Suite 504 Santa Monica, CA 90401 (213) 458-4183 Huntington Society of Canada 13 Water Street North, No. 3 P.O. Box 333 Cambridge, Ontario NIR 5TB Canada (519) 622-1002 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE MERCK MANUAL 15th ed.: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. Pp. 1420, 2141. MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 550-555. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 2135-2136. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 882-883. HUNTINGTON DISEASE: GENETICS AND EPIDEMIOLOGY, P.M. Conneally; American Journal of Human Genetics (May 1984; 36(3)): Pp. 506-525. PROPOSED GENETIC BASIS OF HUNTINGTON'S DISEASE, C.D. Laird; Trends Genet (Aug 1990; 6(8)): Pp.242-247.