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Published on: November 21, 2013
Diagnostic Uncertainties: Chorea
Molly C Cincotta1, Ruth H Walker2
1Department of Neurology, Temple University, Philadelphia, Pennsylvania.
Insights
Chorea, a hyperkinetic movement disorder, has many causes. Prompt diagnosis and evaluation of reversible factors are crucial for better outcomes in new-onset chorea cases.
Area of Science:
- Neurology
- Movement Disorders
Background:
- Chorea is a hyperkinetic movement disorder with diverse acquired and inherited causes.
- New-onset chorea presents an extensive differential diagnosis requiring careful evaluation.
Purpose of the Study:
- To provide an overview of chorea etiologies.
- To outline a practical diagnostic approach for new-onset chorea.
Main Methods:
- Review of potential etiologies for chorea.
- Discussion of diagnostic clues from history, examination, and basic testing.
- Consideration of genetic and non-genetic causes.
Main Results:
- Multiple acquired and inherited conditions can cause chorea.
- Huntington's disease is a common genetic cause, but phenocopies exist.
- Clinical and epidemiological factors guide genetic testing decisions.
Conclusions:
- Prioritizing evaluation of treatable or reversible chorea causes is essential.
- A systematic approach aids in narrowing the differential diagnosis.
- Comprehensive genetic testing, guided by clinical presentation, is important.
Abstract:
Chorea is a hyperkinetic movement disorder with a multitude of potential etiologies, both acquired and inherited. Although the differential diagnosis for new-onset chorea is extensive, there are often clues in the history, exam, and basic testing that can help to narrow the options. Evaluation for treatable or reversible causes should take priority, as rapid diagnosis can lead to more favorable outcomes. While Huntington's disease is most common genetic cause of chorea, multiple phenocopies also exist and should be considered if Huntington gene testing is negative. The decision of what additional genetic testing to pursue should be based on both clinical and epidemiological factors. The following review provides an overview of the many possible etiologies as well as a practical approach for a patient presenting with new-onset chorea.
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