Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of unknown cause that affects mainly the motor neurons of the spinal cord, brain stem and brain. The pathogenesis is still obscure and the diagnosis is based on patient history and clinical examination. A handful of factors have been proposed to be associated with ALS; however, the only established risk factors to date are older age, male sex, and a family history of ALS. The familial cases have their historical importance in causative gene identification since through these discoveries much has been uncovered about ALS pathogenesis. The understanding of clinical and epidemiological factors associated with functional impairment is of fundamental for early adoption of measures to promote a better survival and a better quality of life. Rapid diagnosis of amyotrophic lateral sclerosis (ALS) and other neurological disorders is vital if future treatments are to be applied at an early disease stage. The current pace of discovery and identification of novel disease mechanisms in ALS is unprecedented. Advances in this area, however, have also introduced challenges in the heterogeneity of diagnostic definitions affecting this patient population.
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