At the time of writing, 12 patients had started active treatment based on final diagnoses (nusinersen for 3 spinal muscular atrophy patients, a ketogenic diet for 2 GLUT1 deficiency syndrome cases, L-dopa for 2 dopa-responsive dystonia patients, acetylcholinesterase inhibitors for 2 congenital myasthenia cases, immunotherapy for 2 patients with myositis, and mexiletine therapy for a paramyotonia patient). The gene discussed is ACHE; the disease is proximal spinal muscular atrophy.