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dystonia-parkinsonism","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000739","is_excluded":false,"label":"Anxiety","onset_id":null,"reference":"ORPHA:71517","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/rapid-onset-dystonia-parkinsonism\">Rapid-onset dystonia parkinsonism</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Rapid-onset dystonia parkinsonism is caused by variants (also called mutations) in the ATP1A3 gene. This gene provides instructions for making one part of a larger protein called Na+/K+ ATPase, also known as the sodium pump. This protein is critical for the normal function of nerve cells (neurons) in the brain. It transports charged atoms (ions) into and out of neurons, which is an essential part of the signaling process that controls muscle movement.</p><p>Variants in the ATP1A3 gene reduce activity of the Na+/K+ ATPase or make the protein unstable. Studies suggest that the defective protein is unable to transport ions normally, which disrupts the electrical activity of neurons in the brain. However, it is unclear how a malfunctioning Na+/K+ ATPase causes the movement abnormalities characteristic of rapid-onset dystonia parkinsonism.</p><p>The signs and symptoms of rapid-onset dystonia parkinsonism can occur in people who do not have variants in the ATP1A3 gene. The genetic cause of the disorder is unknown in these individuals. Researchers believe that a variant in at least one other gene, which has not been identified, can cause this disorder.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/rapid-onset-dystonia-parkinsonism/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Rapid-onset dystonia parkinsonism?"},{"bodyHtml":"<p>Rapid-onset dystonia parkinsonism causes movement abnormalities that can make it difficult to walk, talk, and carry out other activities of daily life. In people with this disorder, dystonia affects the arms and legs, causing muscle cramping and spasms. Facial muscles are often affected, resulting in problems with speech and swallowing. People with rapid-onset dystonia and parkinsonism may also have headaches; seizures; a distorted view of reality (psychosis); or difficulty processing, learning, and remembering information (cognitive impairment).</p><p>The movement abnormalities associated with rapid-onset dystonia parkinsonism tend to begin near the top of the body and move downward. They affect the facial muscles first, then the arms, and finally the legs.</p><p>The signs and symptoms of rapid-onset dystonia parkinsonism most commonly appear in adolescence or young adulthood. In some affected individuals, signs and symptoms can be triggered by an infection, physical stress (such as prolonged exercise), emotional stress, or alcohol consumption. The signs and symptoms tend to stabilize within about a month, but they typically do not improve much after that. In some people with this condition, the movement abnormalities abruptly worsen during a second episode several years later.</p><p>Some people with rapid-onset dystonia parkinsonism have been diagnosed with anxiety, social phobias, depression, and seizures. It is unclear whether these disorders are related to the genetic changes that cause rapid-onset dystonia parkinsonism.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/rapid-onset-dystonia-parkinsonism\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"rapid-onset-dystonia-parkinsonism","sourceDocuments":[{"name":"Rapid-onset dystonia parkinsonism","reviewed":"2024-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:38.822478+00:00","label":"Causes","pageSha256":"5b8c7a6147f637957a9e40d07c3a9fbdcf5d112484b064b0fae7a487696dae0e","sourceUrl":"https://medlineplus.gov/genetics/condition/rapid-onset-dystonia-parkinsonism/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/rapid-onset-dystonia-parkinsonism"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Rapid-onset dystonia parkinsonism"},"schemaVersion":1}