Adult polyglucosan body disease (APBD) is a rare genetic glycogen storage disorder caused by an inborn error of metabolism. Symptoms can emerge any time after the age of 30; early symptoms include trouble controlling urination, trouble walking, and lack of sensation in the legs. People eventually develop dementia. A person inherits loss-of-function mutations in the GBE1 gene from each parent, and the lack of glycogen branching enzyme (the protein encoded by GBE1) leads to buildup of unbranched glycogen in cells, which harms neurons more than other kinds of cells. Most people first go to the doctor due to trouble with urination. The condition is diagnosed by gathering symptoms, a neurological examination, laboratory tests including genetic testing, and medical imaging. As of 2015 there was no cure or treatment, but the symptoms could be managed. People diagnosed with APBD can live a long time after diagnosis, but will probably die earlier than people without the condition. Signs and symptoms
Adult polyglucosan body disease is a condition that affects the nervous system. People with this condition have problems walking due to reduced sensation in their legs (peripheral neuropathy) and progressive muscle weakness and stiffness (spasticity). Damage to the nerves that control bladder function (neurogenic bladder) causes progressive difficulty in controlling the flow of urine. About half of people with adult polyglucosan body disease experience dementia. Most people with the condition first complain of bladder issues.People with adult polyglucosan body disease typically first experience signs and symptoms related to the condition between ages 30 and 60.
Following PCD resolution patients are more likely to develop venous insufficiency and post-thrombotic syndromeA grading system has been established:
Grade I = non-complicated (no blistering, strong sensory-motor function and strong distal pulses)
Grade II = impending venous gangrene (blistering, weak sensory-motor function and weak distal pulses)
Grade III = venous gangrene

Epidemiology
PCD is most likely to occur in people in their 50s and 60s, but can occur as early as 6 months old. There is slight male predominance of around 1.5:1. History
This phenomenon was first discovered by Fabricus Hildanius in the 16th century, and was officially termed "phlegmasia cerulea dolens" by Gregoire in 1938. Phlegmasia originates from the Greek root phlegma (inflammation), cerulea originates from Latin root caeruleus (dark blue), and dolens originates from Latin word dolens (suffering). References


== External links ==