What is Adult Polyglucosan Body Disease (APBD)

Adult Polyglucosan Body Disease (APBD) is a rare genetic disorder that affects the nervous system. It is characterized by the accumulation of abnormal glycogen deposits, known as polyglucosan bodies, in various tissues of the body, particularly in nerve cells. APBD typically manifests in adulthood, usually between the ages of 40 and 60.

The symptoms of APBD can vary widely, but commonly include progressive weakness and stiffness in the legs, difficulty walking, urinary urgency and frequency, as well as sexual dysfunction. As the disease progresses, individuals may also experience cognitive impairment, muscle wasting, and peripheral neuropathy.

APBD is caused by mutations in the GBE1 gene, which is responsible for producing an enzyme called glycogen branching enzyme. The deficiency of this enzyme leads to the abnormal accumulation of glycogen in the affected tissues.

Currently, there is no cure for APBD, and treatment focuses on managing the symptoms and improving quality of life. Physical therapy, assistive devices, and medications may be used to alleviate specific symptoms. Genetic counseling is recommended for individuals with a family history of APBD or those planning to have children.