About Ataxia-telangiectasia

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Quick Information for the Care of Patients with A-T

This card was developed to provide quick information for emergency room, urgent care, and other health care providers.

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Ataxia-telangiectasia (A-T) is an autosomal recessive disease characterized by:

  • progressive neurologic degeneration with ataxia, eye movement abnormalities, dysarthria and impaired chewing and swallowing,
  • immunodeficiency with lymphopenia and hypogammaglobulinemia of varying severity (from which some patients have antibody deficiency and receive gammaglobulin therapy),
  • cancer predisposition (non-Hodgkin's lymphoma and leukemia most common)
  • telangiectasia, especially over the sclerae. In rare instances, telangiectasia can cause internal complications of bladder, brain, liver and lung.

Diagnostic X-Rays and CT Scans in A-T

People with A-T have an increased sensitivity to ionizing radiation (x-rays and gamma rays).

  • X-rays should be performed only when the result will affect medical management.
  • If a patient with A-T has fever, cough, and breath sounds characteristic of pneumonia, a diagnosis of pneumonia can be made clinically, and antibiotics can be prescribed without x-ray confirmation. If symptoms persist despite antibiotics, a follow-up chest x-ray may be useful.
  • Routine screening dental x-rays should be avoided, but an x-ray to evaluate tooth pain is reasonable.
  • In order to keep radiation to a minimum, patients should receive frontal view chest radiographs or radiation-sparing techniques for CT (e.g. fewer CT images per scan).
  • There is no contraindication to MRI or ultrasound investigation.

Management of Acute Infection

A-T patients are predisposed to upper and lower respiratory tract infections because of immunodeficiency, aspiration, and impaired cough.

  • Use of antibiotics should be considered for treatment of upper or lower respiratory tract infections that are severe, accompanied by fever, or persist for greater than 7 days.
  • Precautions should be taken to reduce the risk of aspiration during respiratory illnesses.

Preoperative Evaluation and Surgery

A preoperative evaluation of lung function should be performed in all A-T patients regardless of age and whether or not they have chronic respiratory symptoms.

  • Children and adults with A-T may have difficulty coming off the ventilator after surgery or other procedures requiring general anesthesia.
  • Possible alternatives to general anesthesia and strategies that maximize airway clearance following anesthesia should be considered.
  • Following placement of a gastrostomy tube, enteral feedings should be advanced with caution.

For more information, physicians log in at UpToDate.com

Contact Information

A-T Clinical Center
Johns Hopkins Children's Center
Jenny Wright, RN - Clinic Coordinator
800.610.5691

Howard M. Lederman, MD PhD - Clinic Director
410.955.5883

A-T Cancer Clinic
St. Jude Children's Research Hospital
John T. Sandlund, MD (to be contacted only by physicians per St. Jude policy)
901.495.3300

 

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5300 W. Hillsboro Blvd., Suite 105
Coconut Creek, FL 33073 USA

800.5.HELP.A-T (800.543.5728)
954.481.6611

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