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Muscle Nerve. 2009 Oct;40(4):652-6. doi: 10.1002/mus.21350.

An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy.

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Department of Neurology, Ohio State University, 421 Means Hall, 1654 Upham Drive, Columbus, Ohio 43210, USA.


To evaluate the effect of SMN2 copy number on disease severity in spinal muscular atrophy (SMA), we stratified 45 adult SMA patients based on SMN2 copy number (3 vs. 4 copies). Patients with 3 copies had an earlier age of onset and lower spinal muscular atrophy functional rating scale (SMAFRS) scores and were more likely to be non-ambulatory. There was, however, no difference between the groups in quantitative muscle strength or pulmonary function testing. Functional scale may be a more discriminating outcome measure for SMA clinical trials.

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