Amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease, is characterized by the degeneration of both upper and lower motor neurons, which leads to muscle weakness and eventual paralysis. Until recently, ALS was classified primarily within the neuromuscular domain, although new imaging and neuropathological data have indicated the involvement of the non-motor neuraxis in disease pathology. In most patients, the mechanisms underlying the development of ALS are poorly understood, although a subset of patients have familial disease and harbour mutations in genes that have various roles in neuronal function. Two possible disease-modifying therapies that can slow disease progression are available for ALS, but patient management is largely mediated by symptomatic therapies, such as the use of muscle relaxants for spasticity and speech therapy for dysarthria. Amyotrophic lateral sclerosis (ALS) is characterized by the degeneration of both upper and lower motor neurons, which leads to progressive muscle weakness and paralysis. This Primer by Hardiman and colleagues provides a detailed overview of the epidemiology, pathophysiology and diagnosis of ALS, and discusses the management of both the motor and non-motor symptoms of this condition.