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. 2023 Jul 17;9(4):e200087. doi: 10.1212/NXG.0000000000200087

Figure 3. Flow Diagram With the Recommended Diagnostic Approach in Non-5q Spinal Muscular Atrophy (SMA) Patients.

Figure 3

All 3 different sections (genetic, clinical, and ancillary findings) are critical for a correct final diagnosis. Findings in each section should be confronted to findings in the other 2 sections before establishing a definitive diagnosis. Genes underscored show an autosomal dominant (AD) transmission while the rest show an autosomal recessive (AR) transmission, with the exception of the COL6 genes (COL6A1, COL6A2, COL6A3), which may be both AD and AR. The Figure was partly generated using Servier Medical Art, provided by Servier, licensed under a Creative Commons Attribution 3.0 unported license. CK = creatine kinase; NCS = nerve conduction studies; NGS = next-generation sequencing; SNAP = sensory nerve action potential.