Ataxia - telangiectasia

Definition

Ataxia-telangiectasia is rare childhood disease that affects the brain and other parts of the body.

Ataxia refers to uncoordinated movements, such as walking. Telangiectasis is the enlargement of blood vessels (capillaries) just below the surface of the skin. Telangiectasis appear as tiny, red, spider-like veins.

Alternative Names

Causes

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.

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)

Exams 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

Treatment

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

Support Groups

Ataxia Telangiectasia Children's Project - www.atcp.org

National Ataxia Foundation (NAF) - www.ataxia.org

Outlook (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.

Possible Complications

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

When to Contact a Medical Professional

Call your health care provider if signs or symptoms of the disease are present.

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.