Untwisting dystonia: stepping-up genetics, shifting pathophysiology, and strategizing care

Excerpt

Dystonia belongs to the most common movement disorders, with a prevalence which increases with age (Steeves et al. 2012) and may reach > 700 per 100,000 in individuals above 50 years of age (Müller et al. 2002). Although the original use of the term dystonia likely referred to a single disorder (Oppenheim 1911; Klein and Fahn 2013), in the last several decades, it became clear that it actually represents a hypernym that covers a large number of clinically and etiologically different conditions. Furthermore, in recent years, the development and wide availability of new technologies and resources allowed for a better understanding of the pathological processes preceding dystonic symptoms in patients. The reduction of what used to be decades of efforts in finding new dystonia genes to mere months represents a particularly illustrative example of these contemporary advances. In parallel, our comprehension of various aspects of dystonia has considerably improved treatment and care options for patients. …