Sections View Full Chapter Figures Tables Videos Annotate Full Chapter Figures Tables Videos Supplementary Content +++ 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 +++ Diagnosis ++ 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 +++ Treatment ++ 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 Your Access profile is currently affiliated with [InstitutionA] and is in the process of switching affiliations to [InstitutionB]. Please select how you would like to proceed. Keep the current affiliation with [InstitutionA] and continue with the Access profile sign in process Switch affiliation to [InstitutionB] and continue with the Access profile sign in process Get Free Access Through Your Institution Learn how to see if your library subscribes to McGraw Hill Medical products. Subscribe: Institutional or Individual Sign In Error: Incorrect UserName or Password Username Error: Please enter User Name Password Error: Please enter Password Sign in Forgot Password? Forgot Username? Sign in via OpenAthens Sign in via Shibboleth You already have access! Please proceed to your institution's subscription. Create a free profile for additional features.