Dystonia genes and their biological pathways

摘要: The dystonias are a group of disorders characterized by excessive contraction muscles leading to abnormal involuntary movements. clinical manifestations very heterogeneous, with numerous distinct syndromes. etiologies for dystonia also heterogeneous idiopathic, acquired, and inherited forms. Technological advances in genetics over the past two decades have led rapid growth number genes associated dystonia. These encode proteins diverse biological functions. This review focusses on that contributed understanding shared pathways relevant specific subgroups Although many potential been proposed, ones addressed here include defects dopamine signaling, mitochondrial dysfunction energy maintenance, toxic accumulation heavy metals brain, calcium channels homeostasis. Elucidation these other is important basis designing novel experimental therapeutics broadest multiple types