| Abstract | | Dystonia is a neurologic syndrome dominated by involuntary, sustained or spasmodic, patterned, and repetitive muscle contractions, frequently causing twisting and other abnormal movements or postures. As a result of genetic advances, the classification of dystonia is continuously being refined. The gene for classic autosomal dominant idiopathic torsion dystonia (ITD) bas been mapped to 9q 34 (DYT1) and the locus for the doparesponsive dystonia (DRD) gene has been recently found to be on the long arm of chromosome 14. It is likely that the gene mutations for these and other genetic dystonias will be identified in the near future. In addition to the idiopathic (primary or genetic) dystonias, the mechanisms of some secondary forms, such as tardive, metabolic, and posttraumatic dystonias, are being studied. Remarkable progress has been made in the symptomatic treatment of dystonia. Botulinum toxin (BTX) has become a powerful therapeutic tool for focal and segmental dystonias. The mechanisms of action of various types of BTX have become elucidated and other paralyzing agents will be studied in the future. Pharmacologic therapy has expanded beyond oral anticholinergic, baclofen and muscle relaxants to intrathecal baclofen infusions, new surgical approaches and other therapeutic strategies.
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| Summary | | Distonija je nevrološki sindrom, za katerega so značilne nehotene dolgo- ali kratkotrajne in ponavljane kontrakcije mišic, ki povzročajo nenormalne gibe - zgibke (zlati zasuke) - in nenavadne drže. Napredek na področju genetike omogoča boljšo klasifikacijo distonij. Gen za klasično avtosomno dominantno idiopatsko torzijsko distonijo (ITD) je 9q34 (DYT1), lokus za dopaodzivno distonijo pa so pred kratkim našli na dolgi ročici kromosoma 14. Verjetno bodo genetiki v bližnji prihodnosti odkrili genske mutacije za te in za druge distonije. Ob idiopatskih (primarnih ali genetskih) distonijah pa je vse več raziskav namenjeno tudi sekundarnim distonijam (npr. tardivnim, presnovnim, posttravmatskim). Izjemen napredek smo dosegli pri simptomatskem zdravljenju distonij. Botulin (BTX) je učinkovito zdravilo za fokalne in segmentne distonije. Mehanizem delovanja raznih vrst botulina nam postaja vse bolj razumljiv in kmalu bodo pričeli preučevati še druge snovi, ki povzročajo paralizo. Zdravljenje z oralnimi antiholinergiki, baklofenom in mišičnimi relaksansi lahko dopolnimo z intratekalnimi infuzijami baklofena, uveljavljajo pa se tudi novi kirurški pristopi in druge strategije zdravljenja.
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