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Reproduced with permission from Hersch, S. M.; Ferrante, R. J. NeuroRx 2004, 1, 298-306.84 Copyright © 2006, American Society for Experimental NeuroTherapeutics. All rights reserved.

(fALS: inherited); and (3) Guamanian (of dietary origin). The majority of ALS cases are sporadic. Only 5-10% of cases are of the familial type. Accurate diagnosis of ALS rules out other diseases in which upper motor neuron dysfunction is absent (e.g., progressive muscular atrophy, spinal muscular atrophy) or is the only feature present (e.g., primary lateral sclerosis). Clinical features of ALS include areflexia (absence of spinal reflexes), hypotonia (loss of muscle tone), fasciculations (muscle twitching), and generalized muscle weakness that typically first occurs in the arms and legs. Involvement of upper motor neurons is evident if excessive salivation, dysphagia (impaired swallowing), and dysarthria (impaired speech) occur. Motor neuron death innervating the diaphragm muscle leads to the need for trachoestomy and at the latest stage ventilator-assisted respiration.

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