What is APBD?

Adult Polyglucosan Body Disease (APBD) is a very rare inherited condition that affects many body systems. It happens when there are changes (variants) in the GBE1 gene, which leads to a shortage of an important enzyme called glycogen-branching enzyme, which helps your body function correctly. Without enough of this enzyme, polyglucosan bodies build up in the body’s tissues, especially in the muscles and the brain, causing damage.

Watch this video to learn more about how APBD affects your body:

The typical APBD patient will begin with numbness in his or her extremities, along with urinary frequency that far exceeds the norm. While onset varies from person to person, it is a “prime of life” disease, with symptoms starting anywhere from 30 to 60. Over time, symptoms may get worse and can include pain, muscle weakness, severe numbness, difficulty walking (which can eventually lead to complete loss of mobility), and loss of bladder control. Some people may also experience memory or thinking problems.

APBD is extremely rare, with only about 200 documented cases worldwide. However, researchers estimate that up to 26,000 people globally may have some form of GBE1-related disease, including APBD. Because it is so rare and not widely recognized by doctors, many people with APBD are misdiagnosed before getting the right diagnosis.