How is Alpers disease diagnosed?

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How is Alpers disease diagnosed?

Healthcare providers usually diagnose Alpers disease by looking for the main symptoms of dementia, liver disease and seizures. Other tests they may use to confirm the diagnosis include:

  • Cerebrospinal fluid analysis: Your provider collects fluid from your lower back with a spinal tap. They test the fluid for cerebral folate deficiency.
  • Electroencephalography (EEG): Your provider uses EEG to measure your brain’s electrical signals. They place metal disks (electrodes) on your scalp to look at your brain activity. An EEG may show a slowing of activity if you have Alpers disease.
  • Genetic testing: Your provider will take a blood sample. They use this sample to examine the building blocks (sequence) of your genes for mutations.
  • Magnetic resonance imaging (MRI): MRI of your brain will show an increased mass of grey matter with Alpers disease.

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