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

Bakri Elsheikh, Thomas Prior, Xiaoli Zhang, Robert Miller, Stephen J. Kolb, D. A N Moore, Walter Bradley, Richard Barohn, Wilson Bryan, Deborah Gelinas, Susan Iannaccone, Robert Leshner, Jerry R. Mendell, Michelle Mendoza, Barry Russman, Stephen Smith, Wendy King, John T. Kissel

Research output: Contribution to journalArticle

46 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)652-656
Number of pages5
JournalMuscle and Nerve
Volume40
Issue number4
DOIs
StatePublished - Oct 1 2009

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Keywords

  • MVIC
  • Motor neuron
  • SMA
  • SMAFRS
  • SMN2 copy number

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

Cite this

Elsheikh, B., Prior, T., Zhang, X., Miller, R., Kolb, S. J., Moore, D. A. N., Bradley, W., Barohn, R., Bryan, W., Gelinas, D., Iannaccone, S., Leshner, R., Mendell, J. R., Mendoza, M., Russman, B., Smith, S., King, W., & Kissel, J. T. (2009). An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy. Muscle and Nerve, 40(4), 652-656. https://doi.org/10.1002/mus.21350