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24. Picture of Ataxia Telangiectasia (Legs)
Ataxia telangiectasia. Hirsutism on the lower legs and ecchymoses secondary to ataxia and numerous falls.
Ataxia telangiectasia is a progressive neurodegenerative genetic disease characterized by cerebellar ataxia (incoordination and lack of balance), ocular telangiectasia ("red eyes" due to widening of small blood vessels in the conjunctiva), immune defects, and a predisposition to malignancy.
A-T becomes evident in early childhood, usually in the first decade of life. The hallmarks of A-T are lack of balance and slurred speech (due to the ataxia) and telangiectasias (tiny red "spider" veins), which appear in the whites of the eyes or on the surface of the ears and cheeks.
People with A-T are predisposed to leukemia and lymphoma. They are also extremely sensitive to radiation exposure. Most people with A-T have a defective immune system, making them susceptible to recurrent sinus and respiratory infections. Other features of the disease may include diabetes mellitus, premature graying of the hair, difficulty swallowing (which causes choking and drooling), and slowed growth. Children with A-T usually have and maintain normal or above normal intelligence.
There is no cure for A-T and, currently, there is no known therapy to slow the progression of the disease. Treatment is symptomatic and supportive.
Text: WebMD Medical Reference
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