Evaluation and rehabilitation of patients with adult motor neuron disease

Adult motor neuron disease (amyotrophic lateral sclerosis [ALS]) is a neuro degenerative disorder characterized by loss of motor neurons in the cortex, brain stem, and spinal cord, manifested by upper and lower motor neuron si gns and symptoms affecting bulbar, limb, and respiratory musculature. Clini cally, 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 patie nts. Patterns of presentation and pathological features of the disease, alo ng with clinical and electrophysiologic criteria for diagnosis, are discuss ed in this review. Since 8% to 22% of patients survive more than 10 years w ithout ventilator use, meticulous medical and rehabilitation management is extremely important to ensure optimal health and quality of life in these p atients. Major issues in the care of individuals with ALS include weakness and spasticity, impairments in activities of daily living and mobility, com munication deficits and dysphagia in those with bulbar involvement, respira tory compromise, fatigue and sleep disorders, pain, and psychosocial distre ss. Research in ALS changes rapidly, but is currently focused on potential etiologic factors such as glutamate excitotoxicity, role of oxidative stres s, autoimmunity to calcium channels, and cytoskeletal abnormalities, as wel l as related treatment initiatives including glutamate modulators, neurotro phic factors, antioxidants, antiapoptotic factors, and gene therapy. Recent ly, mutations in the gene encoding Cu/Zn superoxide dismutase were identifi ed in a subset of familial ALS patients. Riluzole, a glutamate antagonist a nd Na-channel blocker, became the only drug currently approved for treatmen t of ALS after studies showed a small positive effect on survival. Until a definitive treatment or cure for ALS is found, the multifaceted rehabilitat ion team approach remains the best hope for improving health and survival i n this devastating illness. (C) 1999 by the American Congress of Rehabilita tion Medicine and the American Academy of Physical Medicine and Rehabilitat ion.