Home > Encyclopedia of Neurological Disorders > Dystonia

Definition

Dystonia is a disabling movement disorder characterized by sustained contraction of muscles leading to twisting distorted postures. Dystonia may affect various parts of the body and has multiple causes, making classification and diagnosis challenging. The etiology behind the various forms of dystonia is unknown, although abnormal functioning of the cerebral cortex and basal ganglia and other pathways involved in movement are presumed. Clinical and basic science research on humans and primates, and identification of multiple genes causing dystonia have improved the understanding and treatment of this debilitating disorder.

Description

Dystonia as a term was first coined by Oppenheim in 1911 in reference to a childhood-onset syndrome he termed dystonia musculorum deformans. This entity, known as idiopathic torsion dystonia today, was noted to run in families, and although presumably inherited, was only...