CD-ROM Today 1996 January/CD-ROM Today 1996 January.iso/dp/0427/04278.txt

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$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
     [phone]

     Tourette Syndrome Association
     42-40 Bell Blvd.
     Bayside, NY  11361
     [phone]
     [phone]

     NIH/National Institute of Neurological Disorders & Stroke (NINDS)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]
     [phone]

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
     [phone]

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Ave.
     White Plains, NY  10605
     [phone]

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.