Learn About Ataxia-Telangiectasia

What is the definition of Ataxia-Telangiectasia?

Ataxia-telangiectasia is a rare childhood disease. It 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 blood vessels.

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What are the alternative names for Ataxia-Telangiectasia?

Louis-Bar syndrome

What are the causes of Ataxia-Telangiectasia?

Ataxia-telangiectasia is inherited. This means it is passed down through families. It is an autosomal recessive trait. Both parents must provide a copy of a nonworking gene for the child to have symptoms of the disorder.

The disease results from a mutation in the ATM gene. This gene provides instructions for making a protein that helps control the rate at which cells grow and divide. Defects in this gene can lead to abnormal cell death around the body, including the part of the brain that helps coordinate movement.

Boys and girls are equally affected.

What are the symptoms of Ataxia-Telangiectasia?

Symptoms include:

  • 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 to 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 x-rays
  • Severe respiratory infections that keep coming back (recurring)
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What are the current treatments for Ataxia-Telangiectasia?

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

Who are the top Ataxia-Telangiectasia Local Doctors?
Elite
Highly rated in
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Division Of Allergology

Goethe University 
Frankfurt Am Main, HE, DE 

Stefan Zielen is in Frankfurt Am Main, Germany. Zielen is rated as an Elite expert by MediFind in the treatment of Ataxia-Telangiectasia. He is also highly rated in 27 other conditions, according to our data. His top areas of expertise are Ataxia-Telangiectasia, Telangiectasia, Acute Cerebellar Ataxia, and Grass Allergy.

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Highly rated in
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University Of Queensland

University Of Queensland Centre For Clinical Research 
Brisbane, QLD, AU 4029

Martin Lavin is in Brisbane, Australia. Lavin is rated as an Elite expert by MediFind in the treatment of Ataxia-Telangiectasia. He is also highly rated in 19 other conditions, according to our data. His top areas of expertise are Ataxia-Telangiectasia, Telangiectasia, Drug Induced Dyskinesia, and Oculomotor Apraxia Cogan Type.

 
 
 
 
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Elite
Highly rated in
9
conditions

Service For Rare Disorders

Chaim Sheba Medical Center, Edmond And Lilly Safra Children Hospital 
Tel Litwinsky, TA, IL 

Andreea Nissenkorn is in Tel Litwinsky, Israel. Nissenkorn is rated as an Elite expert by MediFind in the treatment of Ataxia-Telangiectasia. She is also highly rated in 9 other conditions, according to our data. Her top areas of expertise are Ataxia-Telangiectasia, Telangiectasia, Rett Syndrome, and Drug Induced Dyskinesia.

What are the support groups for Ataxia-Telangiectasia?

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

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

What is the outlook (prognosis) for Ataxia-Telangiectasia?

Early death is common, but life expectancy varies.

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

What are the possible complications of Ataxia-Telangiectasia?

Complications may include:

  • Cancer, such as lymphoma
  • Diabetes
  • Kyphosis
  • Progressive movement disorder that leads to wheelchair use
  • Scoliosis
  • Severe, recurrent lung infections
When should I contact a medical professional for Ataxia-Telangiectasia?

Contact your provider if your child develops symptoms of this disorder.

How do I prevent Ataxia-Telangiectasia?

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 for cancer. They should have genetic counseling and increased cancer screenings.

Antibodies
Telangiectasia
What are the latest Ataxia-Telangiectasia Clinical Trials?
A Multicenter, Non-randomized, Open-label Phase 1b Study to Determine the Maximum Tolerated and Recommended Phase 2 Dose of the ATR Inhibitor Elimusertib in Combination With Pembrolizumab and to Characterize Its Safety, Tolerability, Pharmacokinetics and Preliminary Anti-tumor Activity in Participants With Advanced Solid Tumors
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Phase 1/2 Study of 9-ING-41, a Glycogen Synthase Kinase-3 Beta (GSK-3β) Inhibitor, as a Single Agent and Combined With Chemotherapy, in Patients With Refractory Hematologic Malignancies or Solid Tumors
What are the Latest Advances for Ataxia-Telangiectasia?
ATM: Functions of ATM Kinase and Its Relevance to Hereditary Tumors.
Olaparib-induced Apoptosis Through EBNA1-ATR-p38 MAPK Signaling Pathway in Epstein-Barr Virus-positive Gastric Cancer Cells.
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Germline likely pathogenic variants in ataxia-telangiectasia-mutated gene in an Iranian family with hereditary diffuse gastric cancer without CDH1 mutation.
Who are the sources who wrote this article ?

Published Date : July 30, 2021
Published By : Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

What are the references for this article ?

Gatti R, Perlman S. Ataxia-telangiectasia. GeneReviews [Internet]. 2016. PMID: 20301790 pubmed.ncbi.nlm.nih.gov/20301790/. Updated October 27, 2016. Accessed October 29, 2021.

Martin KL. Vascular disorders. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 669.

Safier RA, Cleves-Bayon C, Gaesser J. Neurology. In: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli and Davis' Atlas of Pediatric Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 16.