Health Topic: Ataxia telangiectasia, Part 2

What cause the Ataxia-telangiectasia?

Ataxia-telangiectasia is inherited, which means it is passed down through families. It is an autosomal recessive trait.

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.

Males and females are equally affected. Ataxia-telangiectasia affects approximately 1 in 40,000 to 100,000 people worldwide.

Tests & diagnosis

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

Possible tests include:

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

FROM:Health-VIP