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atrophy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000643","is_excluded":false,"label":"Blepharospasm","onset_id":null,"reference":"ORPHA:101","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f99357053cbdcb09c21df937bd085be7e17b3caac854b6c5b2f67eb24288a2f4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:101","disease_name":"Dentatorubral pallidoluysian atrophy","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002345","is_excluded":false,"label":"Action tremor","onset_id":null,"reference":"ORPHA:101","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/dentatorubral-pallidoluysian-atrophy\">Dentatorubral-pallidoluysian atrophy</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>DRPLA is caused by a variant (also called mutation) in the ATN1 gene. This gene provides instructions for making a protein called atrophin 1. Although the exact function of atrophin 1 is unknown, it appears to play an important role in nerve cells (neurons) in many areas of the brain.</p><p>The ATN1 gene variant that underlies DRPLA involves a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, this segment is repeated 6 to 35 times within the ATN1 gene. In people with DRPLA, the CAG segment is repeated at least 48 times, and the repeat region may be two or three times its usual length. The abnormally long CAG trinucleotide repeat changes the structure of the atrophin 1 protein. This altered protein accumulates in neurons and interferes with normal cell functions. The dysfunction and eventual death of these neurons lead to uncontrolled movements, intellectual decline, and the other characteristic features of DRPLA.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/dentatorubral-pallidoluysian-atrophy/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Dentatorubral-pallidoluysian atrophy?"},{"bodyHtml":"<p>The signs and symptoms of DRPLA differ somewhat between affected children and adults. When DRPLA appears before age 20, it most often involves episodes of involuntary muscle jerking or twitching (myoclonus), seizures, behavioral changes, intellectual disabilities, and problems with balance and coordination (ataxia). When DRPLA begins after age 20, the most frequent signs and symptoms are ataxia, uncontrollable movements of the limbs (choreoathetosis), psychiatric symptoms such as delusions, and deterioration of intellectual function (dementia).</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/dentatorubral-pallidoluysian-atrophy\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"dentatorubral-pallidoluysian-atrophy","sourceDocuments":[{"name":"Dentatorubral-pallidoluysian atrophy","reviewed":"2023-12","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:53.759755+00:00","label":"Causes","pageSha256":"e81efcadff4ccf8136aa3a40186b0eeac2a678e509cfba78541a0d61fb549961","sourceUrl":"https://medlineplus.gov/genetics/condition/dentatorubral-pallidoluysian-atrophy/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/dentatorubral-pallidoluysian-atrophy"}],"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":"Dentatorubral-pallidoluysian atrophy"},"schemaVersion":1}