2. Ataxia-Telangiectasia:
A. Definition (other name)
B. Signs and Symptoms
C. Dental Correlation
D. Classification

3. Ataxia - telangiectasia
Louis-Bar syndrome
Is a rare childhood disease that affects the
brain and other parts of the body.
 Ataxia refers to uncoordinated movements,
such as walking. Telangiectasias are enlarged
blood vessels (capillaries) just below the
surface of the skin. Telangiectasias appear as
tiny, red, spider-like veins.

7. Causes, incidence, and risk
factors
 Ataxia-telangiectasia is inherited, which means it is
passed down through families. It is an autosomal
recessive trait. This means that both parents must
provide a defective gene for the child to have
symptoms of the disorder.
 The disease results from defects in the ataxia
telangiectasia mutated (ATM) gene. Defects in this
gene can lead to abnormal cell death in various
places of the body, including the part of the brain
that helps coordinate movement.
 Boys and girls are equally affected.

8. Symptoms
 Decreased coordination of movements (ataxia) in late
childhood
 Ataxic gait (cerebellar ataxia)
 Jerky gait
 Unsteady
 Decreasing mental development, slows or stops after age 10 -
12
 Delayed walking
 Discoloration of skin areas exposed to sunlight
 Discoloration of skin (coffee-with-milk-colored spots)
 Enlarged blood vessels in skin of nose, ears, and inside of the
elbow and knee
 Enlarged blood vessels in the whites of the eyes
 Jerky or abnormal eye movements (nystagmus) late in the
disease
 Premature graying of the hair
 Seizures
 Sensitivity to radiation, including medical x-rays

10. Signs and tests
 The doctor will perform a physical exam.
Examination may show signs of the following:
 Below normal sized tonsils, lymph nodes, and
spleen
 Decreased to absent deep tendon reflexes
 Delayed or absent physical and sexual
development
 Growth Failure
 Mask-like face
 Multiple skin coloring and texture changes

11. Possible tests include:
 Alpha fetoprotein
 B and T cell screen
 Carcinoembryonic antigen
 Genetic testing to look for mutations in the ATM
gene
 Glucose tolerance test
 Serum immunoglobulin levels (IgE, IgA)
 X-rays to look at the size of the thymus gland

12. Expectations (prognosis)
 Early death is common, but life expectancy
varies.
 Because persons with this condition are very
sensitive to radiation, they should never be
given radiation therapy, and no unnecessary x-
rays should be done.

13. Complications
 Cancer such as lymphoma
 Diabetes
 Kyphosis
 Progressive movement disorder that leads to
wheelchair use
 Scoliosis
 Severe, recurrent lung infections

14. Ataxia Telangiectasia Oral
Effects
 Ataxia telangiectasia is a rare childhood disorder.
It causes damage in the part of the brain that
controls movement and speech. People with this
condition have:
Ataxia -- difficulty controlling voluntary
muscles
Telangiectasias -- lesions of the skin or eyes
Immune system malfunction
 The immune system problems are caused by
abnormalities in two types of white blood cells —
T cells and B cells. As a result, people with ataxia
telangiectasia are more likely to get bacterial,
fungal and viral infections.

15. Dental Correlation
 At the Dentist If you have ataxia
telangiectasia, your dentist should make every
effort to minimize the risk of infection. You will
be given antibiotics before, during, and after
the treatment. You will also be given antifungal
medications before, during, and after your
treatment as well. This will minimize the risk of
infection and minimize the risk of spreading
previous infections.

16. Classification
 In addition to the hallmark neurodegeneration,
there are a number of other features that typify
this debilitating disease. These include:
immune dysfunction, sterility, radiosensitivity
and lymphoid cancer. The immunodeficiency
phenotype in AT is variable and usually
manifests as decreased or absent IgA, IgE and
IgG2.

17. •A major breakthrough in understanding AT came with the identification of a single
gene, ATM (ataxia telangiectasia, mutated), which when mutated is the underlying cause
of the disease. ATM is essential for the repair of double-stranded breaks (DSB) in DNA
without which abnormalities in regulation and cell growth occur:

18. The response in cells with normal ATM expression is initiated by histone
proteins which once activated recruit the MRN complex of proteins to the
damaged area. Autophosphorylation further drives the repair process:

20. Treatment
 There is no specific treatment for ataxia-
telangiectasia. Treatment is directed at specific
symptoms.

21. Prevention
 Couples with a family history of this condition
who are considering pregnancy may consider
genetic counseling.
 Parents of a child with this disorder may have
a slight increased risk of cancer. They should
have genetic counseling and more intensive
cancer screenings.

22. REFERENCE
 http://www.immunopaedia.org.za/index.php?id
=469
 http://www.colgate.com/app/CP/US/EN/OC/Inf
ormation/Articles/Oral-and-Dental-Health-
Basics/Medical-Conditions/Physical-Disorder-
Oral-Effects/article/Immune-Disorders.cvsp
 http://www.cosmeticdentistryguide.co.uk/article
s/ataxia-telangiectasia.html