Dystonia

Dystonia is a common movement disorder involving abnormal, often twisting postures and is a challenging condition to diagnose as we present here in a comprehensive overview. The pathophysiology of dystonia involves abnormalities in brain motor networks, sensorimotor integration, and maladaptive cortical plasticity in the context of genetic factors. Dystonia has genetic, idiopathic, and acquired forms, with a wide phenotypic spectrum, and also is a common feature in complex neurological disorders. Dystonia can be isolated or combined with another disorder and may be focal, segmental, multifocal, or generalized in distribution, with some forms only occurring during the performance of certain specific tasks (task-specific). Dystonia is classified by both clinical characteristics and the presumed etiology. There is limited neuropathological data; however, recent functional imaging and neurophysiological studies have led to substantial insights into the pathophysiology, while molecular biology and genetic studies have identified a number of genes and biological pathways involved in dystonia. Despite these encouraging findings, a lot remains unknown about this elusive condition. The management of dystonia involves the use of botulinum toxin injections, oral medications, and surgical therapies (mainly deep brain stimulation), as well as pathogenesis-directed treatments, including the prospect of gene therapy for genetic causes of dystonia. Further exploration of the pathophysiological underpinnings of dystonia will lead to better understanding of the etiology of dystonia and may lead to new therapeutic targets for future symptomatic and disease-modifying treatments.