A recent review identified seven diseases with a clear neuromuscular involvement that have been targeted by NBS programs over the last twenty years: SMA, PD, DMD, myotonic dystrophy type 1 (MD1), Krabbe disease, X-linked adrenoleukodystrophy (X-ALD), and metachromatic leukodystrophy (MLD) [3]. The gene discussed is LY86; the disease is proximal spinal muscular atrophy.