Testing Info

We’re glad you found us.  On average, people with APBD spend nearly seven years searching for a correct diagnosis.* Cutting that odyssey short is a key goal of the APBD Research Foundation.

Here are common flags for APBD when it’s in its early stages:

  1. Symptoms frequently beginning between the ages of roughly 40 and 60
  2. Neurogenic bladder (can include frequency, incontinence, urgency)
  3. Peripheral neuropathy (weakness, numbness, tingling and/or pain in hands and feet)
  4. Decreased energy
  5. Occurs most frequently – but not exclusively – in people of Ashkenazi Jewish origin

If you would like to proceed with testing for APBD, there are two possible tests that can be ordered by your health care provider.  (1) Screening of the GBE1 gene to discover pathogenic mutations, and (2) Enzyme analysis of a blood sample to determine the activity level of your Glycogen Branching Enzyme.  Both tests are available only as a diagnostic service at specialized laboratories.

If you test positive for APBD, please contact us for more information and support, and join us in the fight to cure this debilitating disease. Very importantly, we want to encourage all diagnosed patients to join the patient registry.

Please contact us if you think we can be of help.

*Frequent misdiagnoses of adult polyglucosan body disease Hellman MA, et al. J Neurol. 2015 Jul 21