Merck Manual

Please confirm that you are a health care professional

honeypot link



James Fernandez

, MD, PhD, Cleveland Clinic Lerner College of Medicine at Case Western Reserve University

Last full review/revision Apr 2021| Content last modified Apr 2021
Click here for Patient Education

Ataxia-telangiectasia results from a DNA repair defect that frequently results in humoral and cellular deficiency; it causes progressive cerebellar ataxia, oculocutaneous telangiectasias, and recurrent sinopulmonary infections. IgA and serum alpha-1 fetoprotein levels are measured. Genetic testing is needed to confirm the diagnosis. Treatment is with prophylactic antibiotics or with immune globulin.

Patients often lack IgA and IgE and have a progressive T-cell defect.

Symptoms and Signs of Ataxia-Telangiectasia

Age at onset of neurologic symptoms and evidence of immunodeficiency vary.

Ataxia is frequently the first symptom and usually develops when children begin to walk. Progression of neurologic symptoms leads to severe disability. Speech becomes slurred, choreoathetoid movements and nystagmus develop, and muscle weakness usually progresses to muscle atrophy.

Telangiectasias may not appear until age 4 to 6 years; they are most prominent on the bulbar conjunctivae, ears, antecubital and popliteal fossae, and sides of the neck.

Recurrent sinopulmonary infections lead to recurrent pneumonia, bronchiectasis, and chronic restrictive pulmonary disease.

Diagnosis of Ataxia-Telangiectasia

  • IgA and serum alpha-1 fetoprotein levels

  • Genetic testing

The following clinical findings suggest the diagnosis of ataxia-telangiectasia:

  • Cerebellar ataxia (particularly when telangiectasias are present)

  • Low levels of IgA (present in 80% of patients with this disorder)

  • High levels of serum alpha-1 fetoprotein

If karyotype analysis is done, chromosome breaks, consistent with a defect in DNA repair, are often seen.

Diagnosis of ataxia-telangiectasia is confirmed by identifying mutations on both alleles of the gene for ATM protein. Because carriers of an ataxia-telangiectasia mutation usually remain asymptomatic, testing siblings for a carrier state can help predict their chance of having an affected child.

Testing for endocrine abnormalities and cancers is done based on clinical presentation.

Treatment of Ataxia-Telangiectasia

  • Supportive care using prophylactic antibiotics or immune globulin (IgG) replacement therapy

In one small study, treatment with amantadine resulted in minimal improvement in motor function, but there is no effective treatment for the progressive neurologic deterioration, which causes death, usually by age 30.

Chemotherapy is often indicated for treatment of associated cancers.

Key Points

  • Ataxia-telangiectasia involves combined humoral and cellular deficiencies.

  • Ataxia is frequently the first symptom and usually develops when children begin to walk.

  • There is no effective treatment for the progressive neurologic deterioration.

Drugs Mentioned In This Article

Drug Name Select Trade
Gammagard S/D
No US brand name
Click here for Patient Education
NOTE: This is the Professional Version. CONSUMERS: Click here for the Consumer Version
Professionals also read

Test your knowledge

Hematopoietic Stem Cell Transplantation
Hematopoietic stem cell (HSC) transplantation is a common technique that may offer a cure to patients with hematologic cancers and disorders. The stem cells can be harvested from bone marrow, peripheral blood, or umbilical cord blood; and HSC transplantation can be autologous or allogeneic. When considering autologous HSC transplantation, which of the following factors is most likely to be a contraindication for this procedure? 
Download the Manuals App iOS ANDROID
Download the Manuals App iOS ANDROID
Download the Manuals App iOS ANDROID

Also of Interest