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Rapid-onset Dystonia-parkinsonism

Rapid-onset dystonia-parkinsonism (RDP) is an autosomal dominant disorder that has been mapped to chromosome 19q (DYT12). Symptom onset may occur during childhood, adolescence, or adulthood. RDP is characterized by the abrupt development over hours, days, or weeks of combined dystonia and parkinsonism. In many cases, the sudden onset or worsening of symptoms may develop following certain stressful events, such as exposure to extreme heat, running, childbirth, or fever. In patients with RDP, findings may include the following:

  • Dystonic movements or postures of the limbs, with the arms typically more affected than the legs
  • Poverty of movement (bradykinesia)
  • Impaired articulation of speech (dysarthria)
  • Difficulties swallowing (dysphagia)
  • Postural instability

Reports indicate that some members of affected kindreds may have an isolated, relatively mild, intermittent limb dystonia of the hand and/or foot that may remain unchanged or may be present years before the sudden onset of combined dystonia-parkinsonism. Diagnostic testing may reveal abnormally low levels of homovanillic acid (HVA) in the cerebrospinal fluid (CSF). Homovanillic acid is produced by normal metabolism of the neurotransmitter dopamine. Depleted levels of HVA may be detected in affected individuals, those who carry a copy of the mutated gene yet have no associated symptoms (asymptomatic carriers), or unaffected individuals with a symptomatic sibling or parent (at-risk individuals). In contrast to DRD, treatment with L-dopa or dopamine agonists provides only minimal benefit.

Because neuroimaging techniques have not detected pathologic abnormalities in RDP, this disorder is often classified as a dystonia-plus syndrome. However, as neuropathologic studies become available, some investigators suspect that it may be shown to be neurodegenerative in nature and thus may be more appropriately classified as a heredodegenerative dystonia. (For further information, please see the section entitled "Etiology/Heredodegenerative Dystonia.")