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An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy
Author(s) -
Elsheikh Bakri,
Prior Thomas,
Zhang Xiaoli,
Miller Robert,
Kolb Stephen J.,
Moore Dan,
Bradley Walter,
Barohn Richard,
Bryan Wilson,
Gelinas Deborah,
Iannaccone Susan,
Leshner Robert,
Mendell Jerry R.,
Mendoza Michelle,
Russman Barry,
Smith Stephen,
King Wendy,
Kissel John T.
Publication year - 2009
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21350
Subject(s) - spinal muscular atrophy , sma* , medicine , ambulatory , atrophy , spinal and bulbar muscular atrophy , disease , androgen receptor , mathematics , prostate cancer , combinatorics , cancer
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. Muscle Nerve, 2009