Picture of Ataxia Telangiectasia (Legs)
Ataxia-telangiestasia (A-T) is a rare, inherited disorder that affects the nervous system, immune system, and other systems of the body. It is most commonly diagnosed in individuals before the age of 5. The progressive, neurodegenerative disorder is caused by a defect in the gene (mutation) that encodes an abnormal version of the ataxia telangiestasia protein. The protein is necessary for repairing DNA and controlling cell division. Ataxia refers to difficulties with voluntary muscle control affecting balance and coordination. Telangiestasias are areas of dilated capillaries that lead to spider-like lesions on the skin. Telangiestasias may also appear in the eyes.
People who have ataxia-telangiesta may suffer from weakened immunity. They may face an increased risk of lung infections, leukemia, and lymphoma. They may be more sensitive to the effects of radiation from X-rays and other sources. The life expectancy of affected individuals is variable, but it is typical to live into early adulthood.
The photo depicts the legs of an affected individual displaying hirsutism (hair growth pattern typical of males seen in females) and areas of bleeding under the skin (ecchymoses) due to trauma from ataxia and falls.
Text Reference: NIH Genetics Home Reference: “Ataxia-Telangiectasia”