Francis, K ;Bach, J ;DeLisa, J Archives Of Physical Medicine And Rehabilitation 1999  Aug; 80(8):  951-63

ABSTRACT: Adult motor neuron disease (amyotrophic lateral sclerosis [ALS]) is a neurodegenerative disorder characterized by loss of motor neurons inthe cortex, brain stem, and spinal cord, manifested by upper and lower motorneuron signs and symptoms affecting bulbar, limb, and respiratory musculature. Clinically, the disease course is characterized by progressive weakness, atrophy, spasticity, dysarthria, dysphagia, and respiratory compromise, ultimately resulting in death or mechanical ventilation in the vast majority of patients. Patterns of presentation and pathological features of the disease, alongwith clinical and electrophysiologic criteria for diagnosis, are discussed in this review. Since 8% to 22% of patients survive more than 10 years without ventilator use, meticulous medical and rehabilitation management is extremely important to ensure optimal health and quality of life in these patients. Major issues in the care of individuals with ALS include weakness and spasticity,impairments in activities of daily living and mobility, communication deficitsand dysphagia in those with bulbar involvement, respiratory compromise, fatigueand sleep disorders, pain, and psychosocial distress. Research in ALS changesrapidly, but is currently focused on potential etiologic factors such asglutamate excitotoxicity, role of oxidative stress, autoimmunity to calciumchannels, and cytoskeletal abnormalities, as well as related treatment initiatives including glutamate modulators, neurotrophic factors, antioxidants, antiapoptoticfactors, and gene therapy. Recently, mutations in the gene encoding Cu/Znsuperoxide dismutase were identified in a subset of familial ALS patients.Riluzole, a glutamate antagonist and Na-channel blocker, became the only drug currently approved for treatment of ALS after studies showed a small positive effect on survival. Until a definitive treatment or cure for ALSis found, the multifaceted rehabilitation team approach remains the best hope for improving health and survival in this devastating illness.

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