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.