Electrodiagnostic approach to the patient with suspected motor neuron disease

The diagnosis of amyotrophic lateral sclerosis (ALS) per se may be challenging since there is no single diagnostic test for ALS (with the exception of finding a mutation in the SOD1 gene). Additionally, the disease may begin focally and resemble a variety of other neurologic disorders that share clinical features with ALS. This latter point emphasizes an important imperative for the clinician--the need to consider a broad range of peripheral and central nervous system disorders in the process of differential diagnosis of ALS, especially when the disease is in its early stages. The authors review the diagnostic criteria for ALS and discuss which features to consider in determining the degree of certainty or level of confidence in the diagnosis. The authors then enumerate the important differential diagnostic possibilities that emerge from a careful consideration of the clinical features and comment on neuroimaging studies and laboratory tests employed in the diagnostic process. Next, the authors turn their attention to the important role played by electrophysiologic studies in the diagnostic evaluation of the patient with suspected ALS. The authors then return to a focused consideration of selected disorders in the differential diagnosis of ALS and conclude with a summary of their diagnostic approach for this disease.