Mutations in the human TOR1AIP1 gene, though rare, pose a major threat to cell homeostasis, as reflected by the broad clinical spectrum linked to these genetic alterations that includes limb–girdle muscular dystrophy, dystonia, dilated cardiomyopathy, progeroid-like multisystemic disorder and, more recently, myasthenic syndrome [13,[16], [17], [18], [19], [20], [21], [22], [23], [24]]. Here, TOR1AIP1 is linked to Dystonia.