Open evidence and computation for 5q spinal muscular atrophy

5q spinal muscular atrophy is an inherited motor neuron disease identified as MONDO:0019079, ORPHA:70, and MeSH D009134. It is caused by loss or pathogenic variation of SMN1 (HGNC:11117) at locus 5q13.2, resulting in insufficient survival motor neuron protein and progressive weakness. Disease severity varies widely, and research spans motor neurons, neuromuscular junctions, skeletal muscle, systemic biology, treatment response, and modifiers of the underlying molecular deficit.

SMA on this platform does not mean α-SMA, or alpha smooth muscle actin: α-SMA is the ACTA2 protein used as a smooth-muscle and myofibroblast marker, not the SMN1-linked disease. Keeping these meanings separate is essential when searching literature, interpreting evidence, and training automated research systems.

As of 2026-08-02, three disease-modifying therapies are approved: nusinersen (Spinraza, FDA 2016), onasemnogene abeparvovec (Zolgensma, 2019), and risdiplam (Evrysdi, 2020). These treatments address the core deficiency through splicing modification or gene replacement, while important questions remain about timing, durability, combination strategies, residual weakness, and disease biology beyond motor neurons.

The SMA Research Platform is an open evidence graph connecting PubMed sources, cited claims, explicitly labeled hypotheses, molecular targets, drugs, and clinical trials. It is designed to make evidence traceable rather than to turn association into fact. Alongside the graph, a compute pipeline explores AlphaFold3 and Boltz-2 structure predictions, molecular docking, and molecular dynamics. These workflows help researchers inspect proposed complexes, prioritize questions, compare computational signals, and return to the primary sources behind each claim.

All compound and structure results on this site are computational predictions, not wet-lab validated. This site is a research resource and does not provide medical advice.