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Ataxia-Telangiectasia

What is Ataxia-telangiectasia?  

Ataxia-telangiectasia (A-T) is a rare, inherited disease that affects several organs and systems, including the nervous and the immune systems. Most notably, it causes progressive degeneration of the cerebellum, the part of the brain that controls movement and speech. Symptoms develop in early childhood. Some of the complications of A-T include cancer (typically leukemia or lymphoma), recurrent infections, and chronic lung disease.

Symptoms  

  • Uncoordinated movements (ataxia)  
  • Poor balance  
  • Slurred speech
  • Feeding and swallowing problems 
  • Spider veins (telangiectasia) on the whites of the eyes   
  • Stunted physical growth and sexual development  
  • Immunodeficiency
  • Recurrent respiratory infections 
  • Sensitivity to x-ray

Diagnosis  

  • Physical exam
  • Laboratory tests, such as measuring levels of alpha-fetoprotein
  • Genetic tests (ATM gene)

Treatment  

There is no cure for A-T. Treatment involves managing the symptoms. This may include:

  • Physical, occupational, and/or speech therapies
  • Supplemental nutritional support
  • Treatment of immunodeficiency
  • Timely treatment of infections

Who Treats Ataxia-telangiectasia at Hopkins Children's?

At Hopkins Children's, A-T is treated at the multi-disciplinary A-T Clinical Center which includes faculty from the divisions of Pediatric Allergy & Immunology, Pediatric NeurologyPediatric Pulmonology and Nutrition

External Links:

National Library of Medicine (National Institutes of Health)  

National Institute of Neurological Disorders and Stroke

A-T Children’s Project

Wikipedia – Ataxia-Telangiectasia


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