Consistent with this assumption, typical MMDS1 patient symptoms include neurological regression, reduced motor control (dystonia) and pulmonary hypertension (Ahting et al., 2015; Ames et al., 2020; Bai and Kong, 2017; Birjiniuk et al., 2020; Cameron et al., 2011; Ferrer-Cortès et al., 2016; Invernizzi et al., 2014; Jin et al., 2017; Navarro-Sastre et al., 2011; Neveu et al., 2022; Nizon et al., 2014; Seyda et al., 2001; Souza et al., 2018; Tonduti et al., 2015; Uzunhan et al., 2020). This evidence concerns the gene NFU1 and Dystonia.