Ataxia Telangiectasia

1

• Ataxia Telangiectasia

2
Diagnosis

• A-T - progressive, degenerative affecting many
  body systems.
• Appear normal at birth, 1st signs usually appear
  during year 2.
• Usually a "wobbly" lack of balance and slurred
  speech caused by "ataxia," (lack of muscle
  control).
• Telangiectasia tiny red "spider" veins which
  appear in the corners of the eyes or on the
  surface of the ears and cheeks exposed to
  sunlight.

3
Whats wrong?

• The ATM protein belongs to a family of
  phosphatidylinosital 3-kinase - like proteins.
• These proteins function as enzymes to transfer a
  phosphate group from ATP to a compound derived
  from phosphatidylinosital.
• These enzymes play a role in detecting damaged
  DNA and in regulating cellular DNA repair
  mechanisms and the cell cycle.

4
Weakened Immune System

• Another sign immunodeficiency recurrent
  respiratory infections.
• low levels of IgA and IgE immunoglobulins, the
  natural infection fighting agents in the blood
• pneumonia is a common cause of death. 

5
Predisposition to Cancer

• A-T children 1000X more likely to have blood
  cancers.
• Lymphoma and leukemia
• A-T patients cannot tolerate therapeutic radiation

6
How frequent is A-T

• Ataxia-telangiectasia respects no racial,
  economic, geographic or education barriers.
• Both males and females are equally affected.
• Epidemiologists estimate the frequency of A-T as
  1 in 40,000 births.
• Might be higher due to misdiagnoses

7
Prognosis

• A-T is incurable
• If lucky enough not to develop cancer, most A-T
  children are dependent on wheelchairs.
• Usually die from respiratory failure or cancer by
  their teens or early twenties.
• A few A-T patients live into their forties, but
  they are extremely rare. 

8
Treatments?

• no cure, no way to slow progression
• alleviate symptoms as they appear
• Because A-T is a rare, "orphan" disease, very
  little research data is available on
  pharmaceutical therapies that may aid these
  children.
• Physical, occupational and speech therapy
• gamma-globulin injections
• high-dose vitamin regimes