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
Motor neuron disease Motor neuron disease Motor neuron diseases (MNDs) are a group of neurodegenerative disorders that selectively affect motor neurons, the cells which control voluntary muscles of the body. Commonly, the following disorders are counted among motor neuron diseases: The term “motor neuron disease” sometimes refers to ALS, but in this article, the term refers to a group of diseases listed above, which includes ALS. Motor neuron diseases affect both children and adults. While each motor neuron disease affects patients differently, they all cause movement-related symptoms, mainly muscle weakness. Most diseases seem to occur randomly without known causes, but some forms are