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
Neoteny in humans body is indicated by glabrousness (hairless body). Neoteny of the genitals is marked by the absence of a baculum (penis bone); the presence of a hymen; and the forward-facing vagina. Neoteny in humans is further indicated by the limbs and body posture, with the limbs proportionately short compared to torso length; longer leg than arm length; the structure of the foot; and the upright stance. Humans also retain a plasticity of behavior that is generally found among animals only in the young. The emphasis on learned, rather than inherited, behavior requires the human brain to remain receptive much longer. These