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.
- 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
- Recurrent respiratory infections
- Sensitivity to x-ray
- Physical exam
- Laboratory tests, such as measuring levels of alpha-fetoprotein
- Genetic tests (ATM gene)
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 Neurology, Pediatric Pulmonology and Nutrition.