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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>A particular variant (also called a mutation) in the TOR1A gene (also known as DYT1) is responsible for most cases of early-onset isolated dystonia. Variants in other genes cause other forms of dystonia, such as dystonia 6.</p><p>The TOR1A gene provides instructions for making a protein called torsinA. Although little is known about its function, this protein may help process and transport other proteins within cells. It appears to be critical for the normal development and function of nerve cells in the brain.</p><p>A variant in the TOR1A gene alters the structure of torsinA. The altered protein&#x27;s effect on the function of nerve cells in the brain is unclear. People with early-onset isolated dystonia do not have a loss of nerve cells or obvious changes in the structure of the brain that would explain the abnormal muscle contractions. Instead, the altered torsinA protein may have subtle effects on the connections between nerve cells and likely disrupts chemical signaling between nerve cells that control movement. Researchers are working to determine how a change in this protein leads to the characteristic features of this disorder.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/early-onset-isolated-dystonia/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Early-onset isolated dystonia?"},{"bodyHtml":"<p>The signs and symptoms of early-onset isolated dystonia tend to occur in mid-childhood or adolescence. Abnormal muscle spasms in an arm or a leg are usually the first sign. These unusual movements initially occur while a person is doing a specific action, such as writing or  walking. In some affected people, dystonia later spreads to other parts of the body and the movements may become persistent and present when at rest and not doing an activity. The abnormal movements persist throughout life, but they do not usually cause pain.</p><p>The signs and symptoms of early-onset isolated dystonia vary from person to person, even among affected members of the same family.  The mildest cases affect only a single part of the body, causing isolated problems such as abnormal posture and spasms of the hand while attempting to write (writer&#x27;s cramp). Severe cases involve abnormal movements affecting many parts of the body.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/early-onset-isolated-dystonia\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"early-onset-isolated-dystonia","sourceDocuments":[{"name":"Early-onset isolated dystonia","reviewed":"2022-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:08.512828+00:00","label":"Causes","pageSha256":"6df9f043d7f7ba1806d1eabe19c55924d6604734bedf043fde766a5f5f71d1da","sourceUrl":"https://medlineplus.gov/genetics/condition/early-onset-isolated-dystonia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/early-onset-isolated-dystonia"}],"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":"Early-onset isolated dystonia"},"schemaVersion":1}