Abstract
Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal movements and postures. Dystonias are clinically and genetically highly heterogeneous. Dystonic features can occur isolated or in combination with other movement disorders (combined dystonias) or with a complex neurological and nonneurological presentation (complex dystonias). The clinical diagnosis is based on the phenotypic expression. Dystonias often occur sporadic or can follow any known inheritance pattern. De novo mutations have also been reported. Currently, mutations in >200 genes have been linked to dystonia and can be genetically tested by single gene analysis, gene panels, or exome/genome sequencing. While the etiologic basis of most dystonias is still unknown, genetic causes play a major role in patients with childhood/adolescent onset with mutations in TOR1A, THAP1, GCH1, SGCE, and KMT2B being the most frequent causes of isolated or combined dystonia. The proteins encoded by these genes have diverse cellular functions, including dopamine signaling, transcriptional regulation, calcium, or mitochondrial and energy homeostasis. The most effective therapeutic interventions include local botulinum injections or deep brain stimulation.
Published Version
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