Batten Disease Diagnosis

How will your doctor diagnose you with this condition? Learn about the tests, exams, processes, and other information relating to the diagnosis of Batten Disease below.

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How to Diagnose Batten Disease


Batten disease is often difficult to diagnose because it is so rare. Vision problems are often the first symptoms. Therefore, an initial diagnosis may result from an eye exam. To confirm the diagnosis, tests are taken. These include:

  • Testing to look for evidence of build-up of lipopigments:
    • Blood tests
    • Urine tests
    • Tissue biopsies (skin and rectal) examined with an electron microscope

    Skin Biopsy

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  • Imaging tests to look for specific brain abnormalities:
    • MRI scan -a test that uses magnetic waves to make pictures of the inside of the body
    • CT scan -a type of x-ray that uses a computer to make pictures of the inside of the body
    • Electroencephalogram (EEG) -a test that records the brain's activity by measuring electrical currents through the brain

    MRI Scan

    © 2009 Nucleus Medical Media, Inc.

  • Electrical studies of the eyes-to look for vision problems associated with the disease
  • DNA analysis-to look for the abnormalities that may cause this disease


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Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition. Copyright ©2013 EBSCO Publishing All rights reserved. Source: EBSCO