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The diagnosis of MND is a clinical one, established by a neurologist on the basis of history and neurological examination. There is no diagnostic test for MND. Investigations such as blood tests, electromyography (EMG), magnetic resonance imaging (MRI), and sometimes genetic testing are useful to rule out other disorders that may mimic MND. However, the diagnosis of MND remains a clinical one. Having excluded other diseases, a relatively rapid progression of symptoms is a strong diagnostic factor. Although an individual's progression may sometimes "plateau", it will not recover or slow down. A set of diagnostic criteria called the El Escorial criteria have been defined by the World Federation of Neurologists for use in research, particularly as inclusion/exclusion criteria for clinical trials. Due to a lack of clinical diagnostic criteria, some neurologists use the El Escorial criteria during the diagnostic process, although strictly speaking this is functionality creep.
MND in the presence of both upper and lower motor neurone degeneration is ALS. Where the illness affects only the upper motor neurones it is PLS, and where it affects only the lower motor neurones it is PMA. Progressive bulbar palsy is degeneration of the lower motor neurones innervating the bulbar region (mouth, face, and throat), whilst pseudobulbar palsy refers to degeneration of the upper motor neurones to the same region.
It it possible that Transcranial Magnetic Stimulation can be used to diagnose MND.
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