Ataxia-Telangiectasia

Also known as: A-T

What is ataxia telangectasia?

Ataxia telangectasia (A-T) is a rare, degenerative disorder affecting the part of the brain that controls motor skills, balance, and speech. A-T also weakens the immune system in about 70% of the cases, leading to respiratory disorders and an increased risk of cancer.

What are the symptoms of ataxia telangectasia?

Patients usually have telangectasias (small dilated blood vessels) on the eyes and skin. The hallmark of the disease is poor coordination (ataxia) and telangectasias. Symptoms may first appear in the toddler state with lack of balance, slurred speech, and increased infections.

Patients may have an IgA, IgG, and IgE deficiency leading to increased risk of infections, hyper-sensitivity to ionizing radiation, and raised Alpha-fetoprotein levels. Prognosis is poor for individuals with A-T and symptoms progressively worsen with time. Diagnosis is made clinically and management is symptomatic and supportive.

What are the treatment options for ataxia telangectasia?

Physical and occupational therapy may help improve motor skills and maintain flexibility. Also, gamma-globulin injections and vitamins may support the weakened immune system, and antibiotics may be used to treat infections.


This page was last updated on: July 26, 2021 03:22 PM

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