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$Unique_ID{BRK03502}
$Pretitle{}
$Title{Ataxia Telangiectasia}
$Subject{Ataxia Telangiectasia AT Louis-Bar Syndrome Cerebello-oculocutaneous
Telangiectasia Immunodeficiency with Ataxia Telangiectasia Friedreich's Ataxia
Marie's Ataxia Charcot-Marie-Tooth Disease Olivopontocerebellar Atrophy
Diabetes Mellitus}
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Copyright (C) 1987, 1990, 1992 National Organization for Rare Disorders,
Inc.

406:
Ataxia Telangiectasia

** IMPORTANT **
It is possible the main title of the article (Ataxia Telangiectasia) is
not the name you expected.  Please check the SYNONYMS listing on the next
page to find alternate names, disorder subdivisions, and related disorders
covered by this article.

Synonyms

     AT
     Louis-Bar Syndrome
     Cerebello-oculocutaneous Telangiectasia
     Immunodeficiency with Ataxia Telangiectasia

Information on the following diseases can be found in the Related
Disorders section of this report:

     Friedreich's Ataxia
     Marie's Ataxia
     Charcot-Marie-Tooth Disease
     Olivopontocerebellar Atrophy
     Diabetes Mellitus

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.


Ataxia Telangiectasia, also known as Louis Bar Syndrome, is an inherited
progressive form of cerebellar ataxia that usually begins during infancy.  It
involves progressive loss of coordination in limbs, head and eyes, and lower
than normal immune response against infections.  During the course of the
disorder, dilated blood vessels (telangiectasias) appear in the eyes and
skin.  Individuals with this form of Ataxia are more susceptible to sinus and
lung infections and may develop tumors (neoplasia).  Ataxia Telangiectasia
may be misdiagnosed as Friedreich's Ataxia until telangiectasias appear.
(For more information, choose "Friedreich" as your search term in the Rare
Disease Database).

Symptoms

An early symptom of Ataxia Telangiectasia is diminished muscle coordination
usually noticed when a child begins to walk.  Coordination (especially in the
head and neck area) becomes impaired, and tremors (involuntary muscle
contractions) can occur.  Mental deficiency is not present initially, but may
appear as the disorder progresses.

The telangiectasias (visible dilated blood vessels) usually begin in the
eyes (the eyes look "bloodshot") between three and six years of age, although
they can occur earlier.  These discolorations may spread to the eyelids,
face, ears, roof of the mouth and possibly other areas of the body.  Rapid
eye blinking and movements, and turning of the head may develop gradually.
Occasional nosebleeds may also occur.  The adenoids, tonsils and peripheral
lymph nodes may develop abnormally or fail to develop.  Muscle coordination
in the head and neck area may be gradually impaired causing problems with
swallowing, breathing, drooling, choking and poor cough reflexes.  Slurred
speech and variable jerking, writhing and tic-like movements also be noticed.

Growth retardation can be linked to a growth hormone deficiency.
Premature aging occurs in approximately ninety percent of patients and is
characterized by gray hair with dry, thin, wrinkled or discolored skin during
adolescence.  A variety of other skin or hair problems may develop in some
cases.  Abnormalities of hormone producing (endocrine) glands may be
accompanied by incomplete sexual development in both males and females.

Due to an impaired immune response, patients may be more susceptible to
chronic sinus and/or lung infections, recurring cases of pneumonia and
chronic bronchitis.

Close relatives of persons with Ataxia Telangiectasia may be at a higher
risk of developing certain types of cancer than the general population.

Persons with this disorder may be affected by a high incidence of
carcinoma and lymphoma usually beginning during early adulthood.  Exposure to
X-rays seems to increase the incidence of possible tumors.  Additionally,
individuals with one Ataxia Telangiectasia gene (carriers) also appear to
have an elevated risk for cancer.  A form of Diabetes Mellitus may occur in
some cases.  (For more information on Diabetes Mellitus, choose "Diabetes" as
your search term in the Rare Disease Database).

Causes

Ataxia Telangiectasia is believed to be inherited as an autosomal recessive
trait.  Symptoms may develop due to widespread changes in the central nervous
system.  A thymus gland deficiency is the main immunological abnormality
linked to some cases of this disorder.  Some medical researchers believe an
early stage defect in fetal development may cause this form of Ataxia.

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 recessive disorders, the condition does not
appear unless a person inherits the same defective gene from each parent.  If
one receives one normal gene and one gene for the disease, the person will be
a carrier for the disease, but usually will show no symptoms.  The risk of
transmitting the disease to the children of a couple, both of whom are
carriers for a recessive disorder, is twenty-five percent.  Fifty percent of
their children will be carriers, but healthy as described above.  Twenty-five
percent of their children will receive both normal genes, one from each
parent and will be genetically normal.

Some scientists suspect that a genetic defect in people with Ataxia
Telangiectasia interferes with T-cell and B-cell gene arrangements which
causes an inability to repair damaged cells in individuals with this
disorder.

Affected Population

Ataxia Telangiectasia usually begins during infancy and often affects more
than one child in a family.  Males and females may be affected in equal
numbers.  In the United States, the prevalence is approximately one in 40,000
births.

Related Disorders

Ataxia means walking with an unsteady gait caused by the failure of muscular
coordination or irregularity of muscular action.  There are many forms of
Ataxia.  Some ataxias are hereditary, some have other causes and sometimes
ataxia can be a symptom of other disorders.  To locate information about
other types of ataxia choose "Ataxia" as your search term on the Rare Disease
Database.

Symptoms of the following disorders can be similar to Ataxia
Telangiectasia.  Comparisons may be useful for a differential diagnosis:

Friedreich's Ataxia is a hereditary neuromuscular syndrome characterized
by slow degenerative changes of the spinal cord and the brain.  Dysfunction
of the central nervous system affects coordination of the muscles in the
limbs.  Speech can be affected and numbness or weakness of the arms and legs
may develop.  Various transitional and overlapping forms of Friedreich's
Ataxia can occur.  Although no specific treatment can stop the progression of
this disorder, some symptoms can be alleviated with proper care.  In a few
cases, spontaneous remissions may occur which can last five to ten years or
sometimes longer.  This syndrome appears to be the most common of the many
different forms of hereditary Ataxia and usually begins during childhood or
adolescence.    (For more information on this disorder, choose "Friedreich"
as your search term in the Rare Disease Database).

Marie's Ataxia is a neuromuscular syndrome inherited as a dominant trait.
Also known as Pierre Marie's Disease or Hereditary Cerebellar Ataxia, it
often begins during the third or fourth decade.  An early symptom is
unsteadiness walking down stairs or on uneven ground.  Frequent falls may
occur as the disorder progresses as well as tremors, loss of coordination in
the arms and speech disturbances.  In later stages slight loss of vision, and
loss of pain or touch sensations, may also occur.  Swallowing and clearing of
secretions may eventually become difficult if the throat muscles are
affected.  (For more information on this disorder, choose "Marie" as your
search term in the Rare Disease Database).

Charcot-Marie-Tooth Disease (CMT) is a hereditary neurological disorder
characterized by weakness and atrophy, primarily in the legs.  Disappearance
of the fatty shield surrounding the nerves (segmental demyelination of
peripheral nerves), and associated degeneration of part of the nerve cells
(axons) characterize this disorder.  (For more information on this disorder,
choose "CMT" as your search term in the Rare Disease Database).

Olivopontocerebellar Atrophy (OPCA) is a group of inherited forms of
Ataxia characterized by degeneration of the olivopontocerebellar area of the
brain.  These include Menzel type 1, Fickler-Winkler type 2, retinal
degeneration type 3, Schut-Haymaker type 4, and Ophthalmoplegia (paralysis of
facial and eye muscles) type 5 OPCA.  As in other forms of Ataxia,
progressive muscular and skeletal symptoms can occur in different
combinations and degrees of severity.  Complications such as vision and
hearing difficulties with mental deterioration may also occur.

The following disorder can be secondarily associated with Ataxia
Telangiectasia but is not necessary for a differential diagnosis:

A form of Diabetes Mellitus can occur in some cases of Ataxia
Telangiectasia.  It is characterized by unusually high levels of sugar in the
blood (hyperglycemia).  Insulin-dependent Diabetes is a disorder in which the
body does not produce enough insulin and is, therefore, unable to convert
sugar (glucose) into the energy necessary for daily activity.  The disorder
affects females and males in approximately equal numbers.  Although the exact
causes of insulin-dependent Diabetes are not known, genetic factors seem to
play a role.  (For more information on this disorder, choose "Diabetes" as
your search term in the Rare Disease Database and see the Prevalent Health
Conditions/Concerns area of NORD Services).

Therapies:  Standard

Treatment for Ataxia Telangiectasia is directed toward control of symptoms.
For respiratory infections, therapy with an antibiotic drug, postural
drainage (with the head lower than the rest of the body) of the bronchial
tubes and lungs, and gammaglobulin injections in some cases may be effective.

Avoidance of undue exposure to sunlight may help control spread and
severity of dilated blood vessels (telangiectasias).  Vitamin E therapy has
in some cases been reported to provide temporary relief of some symptoms, but
should only be tried under advice and supervision of a physician to avoid
toxicity.  The drug Diazepam (Valium) may be useful in some cases to help
slurred speech and involuntary muscle contractions.  Physical therapy may
help maintain muscle strength and prevent limb contractures.  Care should be
taken to ward off infections.  Other treatment is symptomatic and supportive.
Genetic counseling may be of benefit to persons with Ataxia Telangiectasia
and their families.

Therapies:  Investigational

Research on Ataxia Telangiectasia concerning immunology and endocrinology is
under way at this time.  Developing laboratory procedures for earlier
diagnoses and specific therapies are priorities of these research projects.

ORPHAN DRUGS

Trials of the experimental drug levamisole (used to heighten the immune
response) is are underway to test effectiveness on Ataxia Telangiectasia and
other disorders involving impaired immune responses.  Other trials involve
the effects of interleukin-2, interferon and chemotherapeutic agents such as
cyclophosphamide.  Complications or side effects of these drugs (such as
toxicity) have not been fully documented and more extensive research is being
pursued.

Clinical trials of the orphan drug physostigmine salicylate (Antilirium)
for treatment of Ataxia Telangiectasia and other inherited forms of ataxia
are underway.  For additional information, physicians can contact:

     Forrest Pharmaceuticals
     2510 Metro Blvd.
     Maryland Heights, MO  64043-00

For information on additional therapies that have been designated as
Orphan Drugs in the last few months, please return to the main menu of NORD
Services and access the Orphan Drug Database.

This disease entry is based upon medical information available through
February 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 Ataxia Telangiectasia, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     National Ataxia Foundation
     750 Twelve Oaks Center
     15500 Wayzata Blvd.
     Wayzata, MN  55391
     [phone]

     Ataxia Telangiectasia Research Foundation
     344 Copa de Oro Road
     Los Angeles, CA  90077
     [phone]

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

     International Tremor Foundation
     360 W. Superior St.
     Chicago, IL  60610
     [phone]

For information on genetics and genetic counseling referrals, please
contact:

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

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

For more information on diabetes, contact:

     American Diabetes Association
     National Service Center
     1660 Duke Street
     Alexandria, VA  22314
     [phone]
     (800) ADA-DISC (800-232-3472)

For more information on tumors, contact:

     American Cancer Society
     1599 Clifton Rd., NE
     Atlanta, GA  30329
     [phone]

     NIH/National Cancer Institute
     9000 Rockville Pike, Bldg. 31, Rm. 1A2A
     Bethesda, MD 20892
     1-800-4-CANCER

The National Cancer Institute has developed PDQ (Physician Data Query), a
computerized database designed to give the public, cancer patients and
families, and health professionals quick and easy access to many types of
information vital to patients with this and many other types of cancer.  To
gain access to this service, call:
     Cancer Information Service (CIS)
     1-800-4-CANCER
     In Washington, DC and suburbs in Maryland and Virginia, 636-5700
     In Alaska, 1-800-638-6070
     In Oahu, Hawaii, [phone] (Neighbor islands call collect)

References

TREATMENT OF PATIENTS WITH DEGENERATIVE DISEASES OF THE CENTRAL NERVOUS
SYSTEM BY ELECTRICAL STIMULATION OF THE SPINAL CORD:  D.M. Dooley, et al.;
Confin Neurol (1981, issue 44(1-3)).  Pp. 71-76.

ATAXIA-TELANGIECTASIA OR LOUIS-BAR SYNDROME:  S.L. Conerly, et al.; J Am
Acad Dermatol (April 1985, issue 12(4)).  Pp.681-696.

VASCULAR DISORDERS:  Amy S. Paller, M.D.; Dermatologic Clinics:  The
Genodermatoses.  (February 1987, issue 5(1)).  Pp. 239-250.

CANCER INCIDENCES IN FAMILIES WITH ATAXIA TELANGIECTASIA, Swift, M., et
al.; N Eng J Med, December 26, 1991, (issue 325 (26)).  Pp. 12831-1836.