DYNC1H1 and proximal spinal muscular atrophy: Variants in the DYNC1H1 gene result in impairment of retrograde axonal transport leading to progressive motor neuron degeneration in mice (Hafezparast et al., 2003) and have been described in a range of neurogenetic diseases, including Charcot–Marie–Tooth type 2O, spinal muscular atrophy, and hereditary spastic paraplegia (Weedon et al., 2011; Harms et al., 2012; Poirier et al., 2013; Strickland et al., 2015; Beecroft et al., 2017).