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Condition

Ataxia-Telangiectasia

Symptoms, Doctors, Treatments, Research & More

Condition 101

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 veins.

What are the alternative names for Ataxia-Telangiectasia?

Louis-Bar syndrome

What are the causes for 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 for 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)

What are the current treatments for Ataxia-Telangiectasia?

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

What are the support groups for Ataxia-Telangiectasia?

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

National Ataxia Foundation (NAF): 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 for 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?

Call 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.

REFERENCES

Gatti R, Perlman S. Ataxia-telangiectasia. GeneReviews. 2016. PMID: 20301790 www.ncbi.nlm.nih.gov/pubmed/20301790. Updated October 27, 2016. Accessed July 30, 2019.

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.

Varma R, Williams SD. Neurology. In: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli and Davis' Atlas of Pediatric Diagnosis. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 16.

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Latest Research

Latest Advance
Study
  • Condition: Epstein-Barr Virus (EBV)-Driven Lymphoma in Patients with Primary Immunodeficiency and DNA Repair Defects
  • Journal: Pediatric blood & cancer
  • Treatment Used: EBV-Directed Viral-Specific T-Lymphocyte Therapy
  • Number of Patients: 2
  • Published —
This case report discusses Epstein-Barr virus (EBV)-directed viral-specific T-lymphocyte therapy for the treatment of EBV-driven lymphoma in patients with primary immunodeficiency and DNA repair defects.
Latest Advance
Study
  • Condition: Massive Hematuria With Ataxia-Telangiectasia Acute Lymphoblastic Leukemia
  • Journal: Journal of pediatric hematology/oncology
  • Treatment Used: Bladder Artery Embolization
  • Number of Patients: 1
  • Published —
The study researched a case of massive hematuria in a patient with ataxia-telangiectasia acute lymphoblastic leukemia who was treated by bladder artery embolization.