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<unk>  bodies. There will also be white matter changes visible in a magnetic resonance imaging scans. Classification<unk>  is an orphan disease and a glycogen storage disorder that is caused by an inborn error of metabolism, that affects the central and peripheral nervous systems. The condition in newborns caused by the same mutations is called glycogen storage disease type IV.
Adult polyglucosan body disease
Akureyri disease
Anti-AQP4 disease
GM2-gangliosidosis, AB variant
Familial amyloid neuropathy
Familial amyloid polyneuropathy
Zaki syndrome
Gangliosidosis