DYNC1H1 and proximal spinal muscular atrophy: Mutations in DYNC1H1 are associated with a wide spectrum of clinical manifestations including spinal muscular atrophy (SMA) [1,3,4,5], hereditary motor and sensory neuropathies [6], hereditary spastic paraplegia [7], malformations of cortical development (MCD), epilepsy, and intellectual disability [2,8,9].