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.
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.


Treatment for Ataxia telangectasia

  • Physical and occupational Therapy may help improve motor skills and maintain flexibility
  • Gamma-globulin injections and vitamins may support the weakened immune system
  • Antibiotics may be used to treat infections

This page was last updated on: 7/26/2018 10:01:05 AM

From the Newsdesk

Patients Share Inspiring Testimonials at First Annual Vascular Birthmarks Conference
In observance of vascular birthmarks awareness month, The International Birthmarks Institute at Nicklaus Children’s Hospital held its first Vascular Birthmarks Conference at the hospital’s main campus on May 5th. The event brought together patients, families and medical professionals representing a range of specialties to present the latest in diagnosis, treatment and research related to birthmarks. 
Young Girl Born with Birthmark on Her Lip has Surgery that Will Change Her Life
Just a few weeks after Brianna was born, her mother noticed a red growth on her daughter’s upper lip.  Her pediatrician referred the family to specialists who diagnosed the growth as an Infantile Hemangioma. On December 7th, Dr. Chad Perlyn of Nickalus Children's Hospital, removed the hemangioma.