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Journal of Child Neurology
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Spinal Muscular Atrophy: Clinical Classification and Disease Heterogeneity

Barry S. Russman, MD

Department of Neurology, Oregon Health & Science University, and Shriners Hospital for Children-Portland, Portland, Oregon, russmanb{at}ohsu.edu

The clinical classification of spinal muscular atrophy, caused by deletion of the survival motor neuron 1 gene (SMN1), is based on age at onset and maximum function achieved. Evidence suggests that maximum function achieved is more closely related to life expectancy than age at onset. Therefore, it is important to wait for a period before assigning a patient to 1 of 5 classes of the disorder. Several diseases result from degeneration of the anterior horn cell but are not caused by SMN1. The classification for these conditions is evolving. This article offers an attempt at organizing one's thinking about this disease group.

Key Words: spinal muscular atrophy • anterior horn cell • SMN1 gene

Journal of Child Neurology, Vol. 22, No. 8, 946-951 (2007)
DOI: 10.1177/0883073807305673
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