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
John Ritter of the "Ritter Rules" which are life-saving reminders to recognize, treat, and prevent thoracic aortic dissection. The purpose of the JRF is to provide accurate information to the general public about the disease and its risk factors, provide support to individuals who have thoracic aortic disease or have lost a loved one to the disease, and improve the identification of individuals at risk for aortic dissections and the treatment of thoracic aortic disease through medical research. Yasbeck worked with the University of Texas Health Science Center at Houston (UTHealth) to establish the John Ritter Research Program in Aortic and Vascular