BEACON EMR HIPAA Disclaimer Site Map Social Media
BayCare Health System
Community Benefit Financial Assistance Policy Quality Report Card Health Library News Doctor Connect Find Us
Services Hospitals Find A Doctor Classes & Events About Us Careers Contact Us Get E-Newsletter
HealthDay Articles & Information
 Back  Back


May We Help You?
 

Call 1-877-692-2922
Monday-Friday, 8am to 5pm

Persons with hearing and speech disabilities can reach the above number through TDD and other specialized equipment by calling the Florida Relay Service at 711.

Contact Us
Send 
e-mail
Search jobs


Decrease (-) Restore Default Increase (+) Font Size
Print    Email
Search Health Information   
 

Ataxia - telangiectasia

Definition

Ataxia-telangiectasia is a rare childhood disease that affects the brain and other parts of the body.

Ataxia refers to uncoordinated movements, such as walking. Telangiectasias are enlarged blood vessels (capillaries) just below the surface of the skin. Telangiectasias appear as tiny, red, spider-like veins.

Alternative Names

Louis-Bar syndrome

Causes

Ataxia-telangiectasia is inherited, which means it is passed down through families. It is an autosomal recessive trait. This means that both parents must provide a defective gene for the child to have symptoms of the disorder.

The disease results from defects in the ataxia telangiectasia mutated (ATM) gene. Defects in this gene can lead to abnormal cell death in various places of the body, including the part of the brain that helps coordinate movement.

Boys and girls are equally affected.

Symptoms

  • Decreased coordination of movements (ataxia) in late childhood that can include ataxic gait (cerebellar ataxia), jerky gait, unsteadiness
  • Decreasing mental development, slows or stops after age 10 - 12
  • Delayed walking
  • Discoloration of skin areas exposed to sunlight
  • Discoloration of skin (coffee-with-milk-colored spots)
  • Enlarged blood vessels in skin of nose, ears, and inside of the elbow and knee
  • Enlarged blood vessels in the whites of the eyes
  • Jerky or abnormal eye movements (nystagmus) late in the disease
  • Premature graying of the hair
  • Seizures
  • Sensitivity to radiation, including medical x-rays
  • Severe respiratory infections that keep coming back (recurring)

Exams and Tests

The doctor will perform a physical exam. Examination may show signs of the following:

  • Below normal sized tonsils, lymph nodes, and spleen
  • Decreased to absent deep tendon reflexes
  • Delayed or absent physical and sexual development
  • Growth failure
  • Mask-like face
  • Multiple skin coloring and texture changes

Possible tests include:

Treatment

There is no specific treatment for ataxia-telangiectasia. Treatment is directed at specific symptoms.

Support Groups

Ataxia Telangiectasia Children's Project - www.atcp.org

National Ataxia Foundation (NAF) - www.ataxia.org

Outlook (Prognosis)

Early death is common, but life expectancy varies.

Because persons with this condition are very sensitive to radiation, they should never be given radiation therapy, and no unnecessary x-rays should be done.

Possible Complications

When to Contact a Medical Professional

Call your health care provider if your child develops symptoms of this disorder.

Prevention

Couples with a family history of this condition who are considering pregnancy may consider genetic counseling.

Parents of a child with this disorder may have a slight increased risk of cancer. They should have genetic counseling and more intensive cancer screenings.

References

Gatti R. Ataxia-Telangiectasia. 1999 Mar 19 [Updated March 11, 2010]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews [serial online]. Seattle, Wash: University of Washington, Seattle; 1993-2013. Accessed September 8, 2013.


Review Date: 9/8/2013
Reviewed By: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
adam.com
 

Serving The Tampa Bay Area © Copyright 2014 BayCare Health System