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Ataxia Telangiectasia

(Louis-Bar Syndrome)

About Louis-Bar

Discovery

  • First documented case was in 1926 by the French
  • Denise Bar reported a 9 year old girl with cerebellar ataxia, mental retardation and bilateral oculocutaneous telangiectasia.
  • In 1995 scientist uncovered the gene that causes this disease
  • Named after Denise Louis Bar

What Happens

Ataxia Telangiectasia or Louis-Bar Syndrome attacks the muscles and brain of young children. It enlarges blood vessels and makes them swollen to put pressure on the muscles preventing them from functioning right. Also it squeezes the brain so it can't send signals and work properly.

Symptoms

  • Decreased coordination
  • Unsteadiness & stumbling walk
  • Mental Development slows or stops after 10-12
  • Enlarged blood vessels
  • Discoloration of skin
  • Premature graying hair
  • Seizures
  • Recurring respiratory infections

People Affected

  • 1 in every 40,000 to 100,000 people get this disease
  • If you have this disease you have a higher chance of getting cancer
  • Weaker immune systems so it's harder to fight off diseases
  • More sensitive to radiation so can be hard and might hurt to get X-ray

Tests & Treatments

Tests to see if you have disease:

  • X-ray to see look at thymus gland
  • Genetic test to see if mutation in ATM gene
  • Glucose tolerance test
  • See if growth failure

Treatments:

Their is no cure for this disease but their are some things that can help from it progressing faster. For example keep exercising so muscles don't get stiff, and also speech therapy helps kids so they can try and stay on a normal path.

Limitations

  • Speech problems
  • stumbling/Can't walk
  • Mental Retardation
  • Slow or stopped growth
  • Might cause cancers
  • Can't receive X-rays

Life Expectancy

Since each diagnosis progresses at a different passe it varies but most people with this live till about 19 to 25 years of age.

How You Get Louis-Bar

Louis-Bar Syndrome is a autosomal recessive trait. This means that the mutation in the genetic code isn't on a sex chromosome but it's on one of the other 44 chromosomes. It also means that you inherit it from both parents. Each parent has to have the mutation and then both have to get passed to you for you to get this disease.

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