Ataxia Telangiectasia

Nikmati jutaan aplikasi Android, game, musik, film, TV, buku, majalah & yang terbaru lainnya. Kapan pun, di mana pun, di seluruh perangkat Anda.

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