Ataxia Telangiectasia

Ataxia-telangiectasia is a rare childhood disease that affects the brain and other parts of the body.
Ataxia refers to uncoordinated movements, such as walking. Telangiectasias are enlarged blood vessels (capillaries) just below the surface of the skin. Telangiectasias appear as tiny, red, spider-like veins.
Causes, incidence, and risk factors
Ataxia-telangiectasia is inherited, which means it is passed down through families. It is an autosomal recessive trait. This means that both parents must provide a defective gene for the child to have symptoms of the disorder.

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.

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

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