Review of Hereditary and Acquired Rare Choreas

Tremor Other Hyperkinet Mov (N Y). 2020 Aug 6:10:24. doi: 10.5334/tohm.548.

Abstract

Background: Movement disorders are often a prominent part of the phenotype of many neurologic rare diseases. In order to promote awareness and diagnosis of these rare diseases, the International Parkinson's and Movement Disorders Society Rare Movement Disorders Study Group provides updates on rare movement disorders.

Methods: In this narrative review, we discuss the differential diagnosis of the rare disorders that can cause chorea.

Results: Although the most common causes of chorea are hereditary, it is critical to identify acquired or symptomatic choreas since these are potentially treatable conditions. Disorders of metabolism and mitochondrial cytopathies can also be associated with chorea.

Discussion: The present review discusses clues to the diagnosis of chorea of various etiologies. Authors propose algorithms to help the clinician in the diagnosis of these rare disorders.

Keywords: Rare disease; inherited disease; orphan disease; treatment.

Publication types

  • Review

MeSH terms

  • Age of Onset
  • Chorea* / diagnosis
  • Chorea* / etiology
  • Chorea* / genetics
  • Humans
  • Movement Disorders* / diagnosis
  • Movement Disorders* / etiology
  • Movement Disorders* / genetics
  • Rare Diseases

Grants and funding

Authors report no funding sources related to the present review. Daniel Martinez-Ramirez: No financial disclosures related to the present manuscript. DMR has received honoraria from Abbott and consulting fees from UCB and Abbvie. Ruth H Walker: No financial disclosures related to the present manuscript. RHW has received honoraria from Neurocrine Biosciences, Inc. and the International Parkinson and Movement Disorder Society, and consulting fees from Advance Medical Opinion. MRV and EMG have no disclosures.