Review of Hereditary and Acquired Rare Choreas

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.

Figure 1

Adult-onset choreas. HD: Huntington disease; HDL: Huntington-disease like; SCA: spinocerebellar ataxia; DRPLA: dentatorubropallidoluysian atrophy; SLE: systemic lupus erythematosus; APS: antiphospholipid syndrome; NMDAR: n-methyl-d-aspartic acid receptor. Adapted from: Hermann A, Walker RH. Diagnosis and treatment of chorea syndromes. Current neurology and neuroscience reports 2015;15:514.

Figure 2

Early/Childhood-onset choreas. HDL: Huntington-disease like; AOA: ataxia with oculomotor apraxia; ASO: antistreptolysin O; SPG: spastic paraplegia. Adapted from: Hermann A, Walker RH. Diagnosis and treatment of chorea syndromes. Current neurology and neuroscience reports 2015;15:514.