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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Activities of Daily Living
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Adult
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Amines / therapeutic use
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Cohort Studies
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Cyclohexanecarboxylic Acids / therapeutic use
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Disability Evaluation
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Excitatory Amino Acid Antagonists / therapeutic use
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Female
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Gabapentin
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Gene Dosage*
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Humans
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Male
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Middle Aged
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Muscle Strength / physiology
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Muscular Atrophy, Spinal / drug therapy
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Muscular Atrophy, Spinal / genetics*
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Muscular Atrophy, Spinal / pathology*
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Phenotype
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Respiratory Function Tests
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Survival of Motor Neuron 2 Protein / genetics
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gamma-Aminobutyric Acid / therapeutic use
Substances
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Amines
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Cyclohexanecarboxylic Acids
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Excitatory Amino Acid Antagonists
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SMN2 protein, human
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Survival of Motor Neuron 2 Protein
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gamma-Aminobutyric Acid
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Gabapentin