It is Tourette's syndrom

来源: mdoc 2007-09-16 09:43:54 [] [旧帖] [给我悄悄话] 本文已被阅读: 0 次 (3947 bytes)

Tourette syndrome
is a hereditary, chronic neurological disorder consisting
of various motor and vocal tics. Tics are sudden,
involuntary, brief, repetitive, stereotypic motor movements.
Symptoms begin in childhood and the location,
number, frequency and complexity of tics change over
time.
System(s) affected: Nervous
Genetics: Genetic predisposition, frequent familial
history of tic disorders. Thought to be autosomal dominant
with incomplete and sex-specifi c penetrances.
Tourette is concordant in identical twins and discordant
in fraternal twins.
Incidence/Prevalence in USA: 0.1 to 0.5
cases per 1,000. It is estimated that there are one
million sufferers of Tourette in the U.S.
Predominant age: 2-15 years in 95% of cases,
average age is 6 years
Predominant sex: Males 3 times more frequent
than females

SIGNS & SYMPTOMS
• Tics occur many times throughout the day and they
change over time. May have only one tic at a time.
• Multiple motor tics such as: facial grimacing, blinking,
head or neck twitching, tongue protruding, sniffi ng,
touching
• Vocal tics such as grunts, snorts, throat clearing or
barking and more complex vocal tics with echolalia
(repeating the last words of someone else), palilalia
(repeating one’s own words), coprolalia (use of
obscenities) or copropraxia (use of obscene gestures)
• Tics usually worsen with stress and are most severe in
the day and infrequent with sleep. When absorbed in a
physical activity the tics are less severe or abate.
• Tics may persist for a few months and remiss then
reoccur with a new motor tic

CAUSES Possibly a gene defect that results in
variable phenotypic expressions including Tourette and
chronic tic disorder, obsessive-compulsive disorders,
attention defi cit hyperactivity disorder. Pathology in
the basal ganglia is suspected. Dopamine hypothesis
suggests abnormal regulation of dopamine release and
uptake may be the cause.

RISK FACTORS Increased prevalence in family
members. Studies reveal 15 to 80% of patients have a
family history of Tourette, often undiagnosed.

DIAGNOSIS
DIFFERENTIAL DIAGNOSIS
• Chronic-tic disorder (present for greater than 12 months
and involves either motor or phonic tics)
• Huntington disease
• Post-infectious encephalitis
• Drug intoxication
• Wilson disease
• Cerebral palsy
• Sydenham chorea
• Head trauma
• Hyperthyroidism
LABORATORY N/A
Drugs that may alter lab results: N/A
Disorders that may alter lab results: N/A
PATHOLOGICAL FINDINGS N/A
SPECIAL TESTS
• EEG studies may reveal nonspecifi c abnormalities in
50%
• EMG studies reveal short bursts of muscle activity
IMAGING N/A
DIAGNOSTIC PROCEDURES A good
history makes the diagnosis; physical exam is typically
normal. Most are diagnosed by parents, relatives or
friends who are knowledgeable.

TREATMENT
APPROPRIATE HEALTH CARE Neurologic
evaluation for therapy
GENERAL MEASURES Patients are clinically
heterogeneous and may have mild, moderate
or very disturbing tics. Encourage a supportive
environment, educate family and friends. The majority
of patients require no medication. Adjustments may be
required in work and school schedule to accommodate
behaviors. Ignore outbursts and motor and vocal tics.
Punishing the child rarely suppresses the present tic
and classically provokes new tics which may be more
problematic.
SURGICAL MEASURES N/A
ACTIVITY No restrictions, encourage exercise
DIET N/A
PATIENT EDUCATION Printed patient information
available from:
Tourette Syndrome Association (TSA)
42-40 Bell Blvd., Bayside, NY 11361-2861
National Hotline (800) 237-0717

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回复:It is Tourette's syndrom -nutrition2- 给 nutrition2 发送悄悄话 (184 bytes) () 09/16/2007 postreply 11:14:25

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