Genetic tests performed before WES excluded Huntington’s disease (IT15), spinal muscular atrophy (SMN1), spinal bulbar muscular atrophy (AR), primary torsion dystonia (DYT1), and the common forms of spastic paraplegias (SPG4, REEP1, ATL1, SPG7). The gene discussed is TOR1A; the disease is proximal spinal muscular atrophy.