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Key Features

  • Estimated prevalence of 1:40,000 to 1:100,000 live births

  • Mutations in the ATM gene seen in > 99% of persons with classic ataxia-telangiectasias

  • Cerebellar ataxia is progressive with worsening slurred speech, abnormalities of eye movements, and movement disorders

  • Conjunctival telangiectasia are usually present

  • Patients have recurrent infections at an early age

Clinical Findings

  • Slurred speech, truncal ataxia, and oculomotor apraxia presents between the ages of 1 and 4 years

  • Choreoathetosis is found in nearly all patients

  • A sensorimotor axonal neuropathy can be present

  • Deep tendon reflexes are decreased or absent in older patients

  • Plantar reflexes are upgoing or absent

  • Nonneurologic manifestations

    • Oculocutaneous telangiectasias

    • Recurrent sinopulmonary infections

    • Hypersensitivity to ionizing radiation with increased susceptibility to cancers, usually leukemia or lymphoma

  • Premature aging with strands of gray hair and insulin-resistant diabetes mellitus may also be features

  • Patients should report any easy bruising, weight loss, or localized swelling to their physician because this may be an early manifestation of malignancy


  • Serum alpha-fetoprotein level

    • Typically elevated to 10 ng/mL or higher

    • Can remain normal in unaffected children until age 24 months

  • Immunodeficiencies of IgA and IgE are common

  • Immunoblotting assay of the ATM protein level should be performed to establish diagnosis

  • Patients with absent or trace amounts of the ATM protein have a definitive diagnosis of ataxia-telangiectasia

  • Molecular genetic testing of the ATM gene can identify the disease-causing mutations

  • To establish the extent of systemic involvement, screening should be performed at diagnosis, including

    • Chest radiograph

    • Pulmonary function testing

    • Complete blood cell count with differential

    • Immunoglobulin levels

    • B/T cell levels and T-cell function

  • In addition, screening for diabetes should be performed with a urinalysis, fasting blood glucose, and hemoglobin A1C

  • Neurologic evaluation should be performed regularly to monitor disease progression, including ocular coordination, and brain imaging


  • Symptomatic

  • IVIg replacement should be considered in patients with frequent and severe infections and very low IgG levels, as well as aggressive pulmonary toilet

  • Neurologic manifestations are treated symptomatically to minimize drooling and ataxia

  • Physical therapy instituted early and continuously can minimize the development of contractures and scoliosis

  • Corticosteroids may decrease neurologic symptoms but discontinuation results in return of symptoms

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