Symptoms:

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

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

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