Dystonia: genetics and treatment update.
BACKGROUND
Dystonia refers to a syndrome of sustained muscle contractions, frequently causing twisting and repetitive movements or abnormal postures. Although age at onset, anatomic distribution, and family history are essential elements in the evaluation of dystonia, new classification increasingly relies on etiologic and genetic data. In recent years, much progress has been made on the genetics of various forms of dystonia and its pathophysiology underlying the clinical signs. The treatment of dystonia has continued to evolve to include newer medications, different forms of botulinum toxin, and various surgical procedures.


RESULTS
In this article, the author reviewed and summarized the history of dystonia, its evolving classification, and recent genetic data, as well as its clinical investigation and treatment.


CONCLUSIONS
Recent advances in molecular biology have led to the discovery of novel dystonia genes and loci, updating classification schemes, and better understanding of underlying pathophysiology. Treatment strategies for dystonia have significantly been updated with the introduction of different forms of botulinum toxin therapy, new pharmacologic agents, and most recently pallidal deep brain stimulation. A systematic approach to the diagnosis and treatment evaluation of dystonic patients provides optimal care for long-term management.
Bhidayasiri
Roongroj
R
Department of Neurology, UCLA Medical Center, David Geffen UCLA School of Medicine, Los Angeles, California, USA. rbh@ucla.edu
D001418:Baclofen / Q000627:therapeutic use; D001905:Botulinum Toxins / Q000627:therapeutic use; D018680:Cholinergic Antagonists / Q000627:therapeutic use; D004421:Dystonia / Q000188:drug therapy / Q000235:genetics* / Q000601:surgery / Q000628:therapy*; D004422:Dystonia Musculorum Deformans / Q000188:drug therapy / Q000235:genetics / Q000601:surgery / Q000628:therapy; D018755:GABA Agonists / Q000627:therapeutic use; D006801:Humans
D018680:Cholinergic Antagonists; D018755:GABA Agonists; D001905:Botulinum Toxins; D001418:Baclofen