Systemic nature of spinal muscular atrophy revealed by studying insurance claims

• DOI: 10.1371/journal.pone.0213680
• Publication Date: 2019-03-14T18:34:09Z
• Authors: Scott L. Lipnick; Denis M. Agniel; Rahul Aggarwal; Nina R. Makhortova; Samuel G. Finlayson; Alexandra Brocato; Nathan Palmer; Basil T. Darras; Isaac Kohane; Lee L. Rubin
• Keywords: Neuromuscular disease; Muscle weakness

Objective We investigated the presence of non-neuromuscular phenotypes in patients affected by Spinal Muscular Atrophy (SMA), a disorder caused mutation Survival Motor Neuron (SMN) gene, and whether these may be clinically detectable prior to clinical signs neuromuscular degeneration therefore independent muscle weakness. Methods utilized de-identified database insurance claims explore health 1,038 SMA compared controls. Two analyses were performed: (1) from entire coverage window; (2) for patients, diagnosis any disease or evidence major increase chance that could attributed directly reduced SMN levels. Logistic regression was used determine diagnosed at significantly different rates between controls obtain covariate-adjusted odds ratios. Results window revealed broad spectrum are differentially subjects Moreover, data their first numerous including defects within cardiovascular, gastrointestinal, metabolic, reproductive, skeletal systems. Furthermore, our provide potential ordering progression beginning with phenotypes. Conclusions Our point direct relationship early, symptoms deficiency. findings particularly important evaluating efficacy SMN-increasing therapies SMA, comparing effectiveness local versus systemically delivered therapeutics, determining optimal therapeutic treatment irreversible damage.