$Unique_ID{BRK04278} $Pretitle{} $Title{Tourette Syndrome} $Subject{Tourette Syndrome Brissaud's II Chronic Multiple Tics Coprolalia-Generalized Tic Disorder Gilles de la Tourette's Syndrome also known as Gilles de la Tourette's Disease Guinon's Myospasia Impulsiva Habit Spasms Maladie de Tics Passing Tics of Childhood also known as Transient Tics of Childhood Tourette Disorder Tics TS} $Volume{} $Log{} Copyright (C) 1984, 1985, 1986, 1987, 1988, 1989, 1990, 1992 National Organization for Rare Disorders, Inc. 2: Tourette Syndrome ** IMPORTANT ** It is possible the main title of the article (Tourette Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Brissaud's II Chronic Multiple Tics Coprolalia-Generalized Tic Disorder Gilles de la Tourette's Syndrome also known as Gilles de la Tourette's Disease Guinon's Myospasia Impulsiva Habit Spasms Maladie de Tics Passing Tics of Childhood also known as Transient Tics of Childhood Tourette Disorder Tics TS Information on the following diseases can be found in the Related Disorders section of this report: Chronic Tics Transient Tics of Childhood Huntington's Disease Sydenham's Chorea Wilson's Disease Benign Essential Blepharospasm 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. Tourette Syndrome is a neurologic movement disorder that is characterized by repetitive motor and vocal tics. Symptoms may include involuntary movements of the extremities, shoulders, face and the voluntary muscles, with uncontrollable, inarticulate sounds and sometimes inappropriate words. Tourette Syndrome is not a progressive or degenerative disorder; rather, symptoms tend to be variable and follow a chronic waxing and waning course throughout an otherwise normal life span. Symptoms Tourette syndrome usually begins in childhood with a twitch (tic) of a facial muscle. A tic is an involuntary repetitive muscle movement. These tics usually appear as excessive eye blinking, nose twitching, or grimacing. Other gestures may include involuntary head shaking, shoulder jerking, arm flapping, foot stomping or the uncontrollable imitation of another person's movements. In some very severe cases some patients may have self-mutilating symptoms. The sounds produced can be inarticulate and meaningless, such as repeated throat clearing, grunts, barks, screams or sniffing. They can include words. The repetition of obscene words (coprolalia) occurs in approximately 30 percent of all patients. Involuntary repetition of a word or sentence spoken by the patient or another person (palilalia or echolalia) may also occur. Tics may subside when the patient is concentrating on a particular task, but intensify during stress. Over periods of months to years some symptoms may disappear and be replaced by new tics; or new symptoms may be added to old ones. Causes Seventy percent of Tourette Syndrome cases appear to be genetic, inherited as an autosomal dominant trait, although an X-linked Tourette modifier gene has been described. Research suggests that there may be a biochemical imbalance of neurotransmitter systems in the brain that causes the symptoms of Tourette Syndrome. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, 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 normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers of an X-linked disorder, but never to their sons. Women who are carriers of an X-linked disorder have a 50 percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk if transmitting the disease to their sons. The effect of gene penetrance is suggested by the high occurrence of first-degree relatives with mild tic conditions in families with Tourette syndrome. Some relatives may have chronic tics, while others may not display any tics but exhibit obsessive-compulsive behaviors, which research indicates are frequently associated with Tourette syndrome. Genetic studies suggest that only about 10 percent of affected Tourette syndrome relatives have symptoms severe enough to interfere with normal, daily living. The chance of an affected parent having a child with Tourette syndrome symptoms has been estimated to be approximately 40 to 50 percent. In many cases, however, the child will have a mild form of the syndrome, although severity of symptoms currently cannot be predicted. Affected Population Tourette syndrome begins in childhood typically between the ages of 2 and 16 years. There are rare cases with later onset as well as symptoms appearing as early as one year. The male:female ratio is 3:1. Tourette syndrome occurs in all nationalities and across all economic groups. The National Institute of Health estimates approximately 100,000 cases of Tourette Syndrome in the United States, although the prevalence may be much higher if all mild cases are counted. Related Disorders Symptoms of the following disorders can be similar to those of Tourette Syndrome. Comparisons may be useful for a differential diagnosis: Chronic Tics begin in childhood, or after the age of forty. Usually either motor or vocal tics are present, not both, and are more limited than in Tourette syndrome. Transient Tics of Childhood are common among elementary school children. These motor tics usually disappear within one year. Huntington's Disease (Huntington's Chorea) is an inherited disease (autosomal dominant) that affects the neurological system. It is progressive and degenerative. This condition initially produces the ceaseless occurrence of jerky and rapid movements that appear to be well coordinated but are actually involuntary. Personality changes also occur, eventually leading to dementia. Symptoms usually begin during adulthood after the age of forty. (For more information on this disorder choose "Huntington's Disease" as your search term in the Rare Disease Database). Sydenham's Chorea is an acute, usually self-limited disorder that occurs after about 5 to 10 percent of cases of rheumatic fever. Patients develop rapid, involuntary movements that can affect the manner or style of walking, arm movements and speech. Clumsiness and facial grimacing are common. (For more information on this disorder choose "Sydenham's Chorea" as your search term in the Rare Disease Database). Wilson's Disease (Hepatolenticular Degeneration) is a rare genetic disorder characterized by excess copper in various body tissues, particularly the liver, brain and eyes. Eventually there is central nervous system dysfunction. Early diagnosis and treatment can prevent long-term disabilities. Neurologic symptoms are usually first seen between the ages of 12 and 32 years. These may include jerky movements, drooling, speech difficulties, lack of coordination, tremor, muscle rigidity and double vision. Other signs include kidney stones, joint disorders and heart problems. (For more information on this disease choose "Wilson's Disease" as your search term in the Rare Disease Database). Benign Essential Blepharospasm is a disorder in which the muscles surrounding the eyelids (orbiculares oculi) do not function properly. Contractions or spasms of the muscles around the eyes occur. These contractions cease and then return intermittently. Although the eyes themselves are not affected, the patient may eventually become functionally blind due to the inability to open the eyelids. Approximately two-thirds of patients also have a general lack of facial muscle tone. About one-third of patients experience involuntary trembling (tremors). However, this disorder usually appears during middle age. (For more information on this disorder choose "Benign Essential Blepharospasm" as your search term in the Rare Disease Database). Therapies: Standard Low doses of the drug haloperidol (Haldol) help suppress the symptoms of Tourette Syndrome in many cases. Side effects often limit the use of this drug. Clonidine (Catapres), approved by the FDA for treatment of hypertension, appears to be effective on motor, vocal, and behavioral symptoms in approximately 50 percent of Tourette patients. Pimozide (Orap) is an approved orphan drug with Dopamine D-2 blocking action. Pimozide is reported to be as effective as Haldol with fewer side effects in the majority of Tourette patients. Other dopamine blocking drugs (i.e., prolixin) are also used to reduce Tourette symptoms. Supportive psychotherapy may be indicated to foster the patient's adjustment to this chronic, socially crippling disorder. Therapies: Investigational Research is ongoing in the areas of neurotransmitters, drugs, and genetics of Tourette syndrome. Studies are underway on drugs that treat the obsessive-compulsive symptoms of Tourette Syndrome including clomipramine and prolixin. Additionally, geneticists have identified several large families with many members affected by Tourette Syndrome. Studies of these families will hopefully lead to identification of the gene that causes this disorder, and ultimately to new treatments. This disease entry is based upon medical information available through August 1992. 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 Tourette Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Tourette Syndrome Association 42-40 Bell Blvd. Bayside, NY 11361 (718) 224-2999 (800) 237-0717 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For information on genetics and genetic counseling referrals, please contact: Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 March of Dimes Birth Defects Foundation 1275 Mamaroneck Ave. White Plains, NY 10605 (914) 428-7100 References CECIL TEXTBOOK OF MEDICINE, 19th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1990. Pp. 2137. MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 270. TOURETTE'S SYNDROME AND TIC DISORDERS, CLINICAL UNDERSTANDING AND TREATMENT, Donald J. Cohen, et al., eds., John Wiley and Son, Inc., 1988.