Adult polyglucosan body disease body disease do not have identified mutations in the "GBE1" gene. In these individuals, the cause of the disease is unknown. Along with evaluation of the symptoms and a neurological examination, a diagnosis can be made based on genetic testing. Whether or not a person is making sufficient amounts of functional glycogen branching enzyme can be determined by taking a skin biopsy and testing for activity of the enzyme. Examination of tissue biopsied from the sural nerve under a microscope can reveal the presence of polyglucosan bodies. There will also be white matter changes visible in a magnetic resonance imaging
Behçet's disease Behçet's disease Behçet's disease (BD) is a type of inflammatory disorder which affects multiple parts of the body. The most common symptoms include painful mouth sores, genital sores, inflammation of parts of the eye, and arthritis. The sores typically last a few days. Less commonly there may be inflammation of the brain or spinal cord, blood clots, aneurysms, or blindness. Often the symptoms come and go. The cause is unknown. It is believed to be partly genetic. Behçet's is not contagious. Diagnosis is based on at least three episodes of mouth sores in a year together with at least two