Chorea is a relatively common movement disorder that can be caused by a large variety of structural, autoimmune, neurodegenerative, pharmacologic, and metabolic disturbances of basal ganglia function. The diagnosis is rarely indicated by the phenotypic appearance of chorea and can be challenging, with many patients remaining undiagnosed. This review highlights salient features that may be observed or elicited in the case of a person with chorea, which may provide an indication of the diagnosis.
Recent advances in genetics have identified genes for new disorders and expanded the phenotype of recognized conditions. New therapies include tetrabenazine, a presynaptic dopamine depleter, and deep brain stimulation.
Clues to diagnosis may be found in the patient’s family or medical history, on neurologic examination, or upon laboratory testing and neuroimaging. While most therapies at present are supportive, correct diagnosis is essential for appropriate genetic counseling and ultimately for future molecular therapies.
Supplemental Digital Content is available in the text.
Address correspondence to Dr Ruth H. Walker, Department of Neurology, James J. Peters Veterans Affairs Medical Center, 130 W. Kingsbridge Road, Bronx, NY 10468, firstname.lastname@example.org.
Relationship Disclosure: Dr Walker reports no disclosure.
Unlabeled Use of Products/Investigational Use Disclosure: Dr Walker discusses the unlabeled use of deep brain stimulation, tetrabenazine, and antipsychotic and anticonvulsant medications for the treatment of chorea.
Supplemental digital content: Videos accompanying this article are cited in the text as Supplemental Digital Content. Videos may be accessed by clicking on links provided in the HTML, PDF, and iPad versions of this article; the URLs are provided in the print version. Video legends begin on page 1260.