Modern diagnostics of amyotrophic lateral sclerosis

The purpose of this review is to systematize data on the diagnostics of amyotrophic lateral sclerosis (ALS ), taking into account international practices in the application of various methods and their efficacy evaluation. For practical application research methods are divided into separate groups. Information from electronic libraries Pubmed, eLIBRARY and Elsiever was used as reference sources. Electromyography (EMG) is still the main method used in ALS diagnostics. It can be effectively combined with other tests. The combined use of ultrasound and EMG increases the number of patients with a reliably detected ALS. MRI allows the differential diagnosis of ALS with diseases that can feign the illness. Couse of various neuroimaging methods can increase the accuracy of ALS diagnostics up to 90 %. The major part of sporadic and familial morbidity is associated with SOD1, C9orf72, TARDBP (TDP-43), and FUS gene mutations. There is still no consensus what mutations should be tested in patients during ALS diagnostics. A series of biochemical analyzes and tests for autoimmune diseases during ALS diagnostics is necessary for proper differential exclusion. Liquor test can be used to assess the neurofilament level and it is also an auxiliary method to diagnose and assess the disease development. Tissue biopsy, as an ALS diagnostic method, is rarely used due to its invasiveness; it is mainly administered in case of atypical symptoms. A promising method in ALS diagnostics is transcranial magnetic stimulation, which allows to fasten the diagnosis. However, at present this procedure is not included in the diagnostic criteria for ALS. Evaluation of respiratory and speech functions is necessary both in diagnosis and management of ALS patients. Thus, ALS patients require a multidisciplinary approach and combined diagnostic techniques for timely diagnosis.